Prof. B.T. Poll-The PhD publications

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Publications Prof. PhD B.T. Poll-The

Position
Full Professor
Main activities
Patient care
Specialisation
Pediatric Neurology
Focus of research
  • Genetic and congenital disorders of the nervous system.
  • Neurometabolic, peroxisomal disorders.

2020

  • Fallatah Wedad, Schouten Monica, Yergeau Christine, di Pietro Erminia, Engelen Marc, Waterham Hans R., Poll-The Bwee Tien, Braverman Nancy Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata Journal of inherited metabolic disease 2020 [PubMed]
  • Hoytema van Konijnenburg Eva M. M., Luirink Ilse K., Schagen Sebastian E. E., Engelen Marc, Berendse Kevin, Poll-The Bwee Tien, Chegary Malika Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome Molecular genetics and metabolism reports 2020;23 [PubMed]
  • van Ballegoij Wouter J. C., Kuijpers Sander C., Huffnagel Irene C., Weinstein Henry C., Poll-The Bwee Tien, Engelen Marc, Bennebroek Carlien A. M., Verbraak Frank D. Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy Journal of neurology 2020;267 (3):679–687 [PubMed]
  • van Dijk Tessa, Barth Peter, Baas Frank, Reneman Liesbeth, Poll-The Bwee Tien Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia Neuropediatrics 2020 [PubMed]
  • Duker Angela L., Niiler Timothy, Kinderman Dagmar, Schouten Monica, Poll-The Bwee Tien, Braverman Nancy, Bober Michael B. Rhizomelic chondrodysplasia punctata morbidity and mortality, an update American journal of medical genetics. Part A 2020;182 (3):579-583 [PubMed]

2019

  • Königs Marsh, Pouwels Petra Jw, Ernest van Heurn Lw, Bakx Roel, Jeroen Vermeulen R., Goslings Jc, Poll-The Bwee Tien, van der Wees Marleen, Catsman-Berrevoets Coriene E., Oosterlaan Jaap Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury (Brain Imaging and Behavior, (2018), 12, 1, (29-43), 10.1007/s11682-017-9673-3) Brain imaging and behavior 2019;13 (4):1183 [PubMed]
  • Huffnagel Irene C., Dijkgraaf Marcel G. W., Janssens Georges E., van Weeghel Michel, van Geel Björn M., Poll-The Bwee Tien, Kemp Stephan, Engelen Marc Disease progression in women with X-linked adrenoleukodystrophy is slow Orphanet journal of rare diseases 2019;14 (1) [PubMed]
  • Berendse Kevin, Koot Bart G. P., Klouwer Femke C. C., Engelen Marc, Roels Frank, Lacle Miangela M., Nikkels Peter G. J., Verheij Joanne, Poll-The Bwee Tien Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder Journal of inherited metabolic disease 2019;42 (5):955-965 [PubMed]
  • Huffnagel Irene C. Life unexpected: Unraveling the natural history of adrenoleukodystrophy 2019. 232p. ISBN 9789463612586. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll-The B. T. , Kemp S.; Co-supervisor: Engelen M.)
  • Berendse Kevin, Boek Maxim, Gijbels Marion, van der Wel Nicole N., Klouwer Femke C., van den Bergh-Weerman Marius A., Shinde Abhijit Babaji, Ofman Rob, Poll-The Bwee Tien, Houten Sander M., Baes Myriam, Wanders Ronald J. A., Waterham Hans R. Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2019;1865 (10):2774-2787 [PubMed]
  • Klouwer Femke C. C., Koot Bart G. P., Berendse Kevin, Kemper Elles M., Ferdinandusse Sacha, Koelfat Kiran V. K., Lenicek Martin, Vaz Frédéric M., Engelen Marc, Jansen Peter L. M., Wanders Ronald J. A., Waterham Hans R., Schaap Frank G., Poll-The Bwee Tien The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy Journal of inherited metabolic disease 2019;42 (2):303-312 [PubMed]

2018

  • van Dijk Tessa, Vermeij Jan-Dirk, van Koningsbruggen Silvana, Lakeman Phillis, Baas Frank, Poll-The Bwee Tien A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia Journal of inherited metabolic disease 2018;41 (5):897-898 [PubMed]
  • van Dijk Tessa, Ferdinandusse Sacha, Ruiter Jos P. N., Alders Mariëlle, Mathijssen Inge B., Parboosingh Jillian S., Innes A. Micheil, Meijers-Heijboer Hanne, Poll-The Bwee Tien, Bernier Francois P., Wanders Ronald J. A., Lamont Ryan E., Baas Frank Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis European journal of human genetics 2018;26 (12):1752-1758 [PubMed]
  • Pelzer Nadine, Hoogeveen Evelien S., Ferrari Michel D., Poll-The Bwee Tien, Kruit Mark C., Terwindt Gisela M. Brain atrophy following hemiplegic migraine attacks Cephalalgia 2018;38 (6):1199-1202 [PubMed]
  • Renaud Mathilde, Moreira Maria-Céu, Ben Monga Bondo, Rodriguez Diana, Debs Rabab, Charles Perrine, Chaouch Malika, Ferrat Farida, Laurencin Chloé, Vercueil Laurent, Mallaret Martial, M'Zahem Abderrahim, Pacha Lamia Ali, Tazir Meriem, Tilikete Caroline, Ollagnon Elisabeth, Ochsner François, Kuntzer Thierry, Jung Hans H., Beis Jean-Marie, Netter Jean-Claude, Djamshidian Atbin, Bower Mattew, Bottani Armand, Walsh Richard, Murphy Sinead, Reiley Thomas, Bieth Éric, Roelens Filip, Poll-The Bwee Tien, Lourenço Charles Marques, Jardim Laura Bannach, Straussberg Rachel, Landrieu Pierre, Roze Emmanuel, Thobois Stéphane, Pouget Jean, Guissart Claire, Goizet Cyril, Dürr Alexandra, Tranchant Christine, Koenig Michel, Anheim Mathieu Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 JAMA Neurology 2018;75 (4):495-502 [PubMed]
  • Zeynelabidin Sara, Klouwer Femke C. C., Meijers Joost C. M., Suijker Monique H., Engelen Marc, Poll-The Bwee Tien, van Ommen C. Heleen Coagulopathy in Zellweger spectrum disorders: a role for vitamin K Journal of inherited metabolic disease 2018;41 (2):249-255 [PubMed]
  • Klouwer F. C. C., Meester-Delver A., Vaz F. M., Waterham H. R., Hennekam R. C. M., Poll-The B. T. Development and validation of a severity scoring system for Zellweger spectrum disorders Clinical genetics 2018;93 (3):613-621 [PubMed]
  • de Mol C. L., Wong Y. Y. M., van Pelt E. D., Ketelslegers I. A., Bakker D. P., Boon M., Braun K. P. J., van Dijk K. G. J., Eikelenboom M. J., Engelen M., Geleijns K., Haaxma C. A., Niermeijer J. M. F., Niks E. H., Peeters E. A. J., Peeters-Scholte C. M. P. C. D., Poll-The B. T., Portier R. P., de Rijk-van Andel J. F., Samijn J. P. A., Schippers H. M., Snoeck I. N., Stroink H., Vermeulen R. J., Verrips A., Visscher F., Vles J. S. H., Willemsen M. A. A. P., Catsman-Berrevoets C. E., Hintzen R. Q., Neuteboom R. F. Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study Journal of neurology 2018;265 (6):1310-1319 [PubMed]
  • van de Beek Malu-Clair Lipotoxicity in adrenoleukodystrophy: Size matters! 2018. 161p. ISBN 9789462997578. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Wijburg F. A.; Co-supervisors: Kemp S., Poll The B. T.)
  • Huffnagel Irene C., Redeker Egbert J. W., Reneman Liesbeth, Vaz Frédéric M., Ferdinandusse Sacha, Poll-The Bwee Tien Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up JIMD reports 2018;39:83-87 [PubMed]
  • Klouwer Femke C. C., Braverman Nancy E., Verkade Henkjan J., Berendse Kevin, Waterham Hans R., Wanders Ronald J. A., Poll-The Bwee Tien, Koot Bart G. P. Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution Journal of pediatric gastroenterology and nutrition 2018;66 (2):e57 [PubMed]
  • van Dijk Tessa Pontocerebellar hypoplasia: Genes and phenotypes 2018. ISBN 9789462999008. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Baas F., Poll-The B. T.; Co-supervisor: Meijers-Heijboer E. J.)
  • Königs Marsh, Pouwels Petra Jw, Ernest van Heurn L. W., Bakx Roel, Jeroen Vermeulen R., Carel Goslings J., Poll-The Bwee Tien, van der Wees Marleen, Catsman-Berrevoets Coriene E., Oosterlaan Jaap Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury Brain imaging and behavior 2018;12 (1):29-43 [PubMed]
  • van Dijk Tessa, Baas Frank, Barth Peter G., Poll-The Bwee Tien What's new in pontocerebellar hypoplasia? An update on genes and subtypes Orphanet journal of rare diseases 2018;13 (1) [PubMed]
  • Klouwer Femke C. C. Zellweger spectrum disorders: From bench to bedside 2018. ISBN 9789462998391. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Waterham H. R., Poll-The B. T.; Co-supervisor: Engelen M.)

2017

  • van Dijk Tessa, Barth Peter, Reneman Liesbeth, Appelhof Bart, Baas Frank, Poll-The Bwee Tien A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's American journal of medical genetics. Part A 2017;173A (1):207-212 [PubMed]
  • Simons Cas, Dyment David, Bent Stephen J., Crawford Joanna, D'Hooghe Marc, Kohlschütter Alfried, Venkateswaran Sunita, Helman Guy, Poll-The Bwee-Tien, Makowski Christine C., Ito Yoko, Kernohan Kristin, Hartley Taila, Waisfisz Quinten, Taft Ryan J., van der Knaap Marjo S., Wolf Nicole I. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy Brain 2017;140 (12):3105-3111 [PubMed]
  • Wanders Ronald J. A., Klouwer Femke C. C., Ferdinandusse Sacha, Waterham Hans R., Poll-Thé Bwee Tien Clinical and Laboratory Diagnosis of Peroxisomal Disorders Methods in molecular biology (Clifton, N.J.) 2017;1595:329-342 [PubMed]
  • Klouwer Femke C. C., Ferdinandusse Sacha, van Lenthe Henk, Kulik Wim, Wanders Ronald J. A., Poll-The Bwee Tien, Waterham Hans R., Vaz Frédéric M. Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders Journal of inherited metabolic disease 2017;40 (6):875-881 [PubMed]
  • Timmers E. R., Kuiper A., Smit M., Bartels A. L., Kamphuis D. J., Wolf N. I., Poll-The B. T., Wassenberg T., Peeters E. A. J., de Koning T. J., Tijssen M. A. J. Non-motor symptoms and quality of life in dopa-responsive dystonia patients Parkinsonism & related disorders 2017;45:57-62 [PubMed]
  • Königs Marsh, Weeda Wouter D., van Heurn L. W. Ernest, Vermeulen R. Jeroen, Goslings J. Carel, Luitse Jan S. K., Poll-The Bwee Tien, Beelen Anita, van der Wees Marleen, Kemps Rachèl J. J. K., Catsman-Berrevoets Coriene E., Oosterlaan Jaap Pediatric traumatic brain injury affects multisensory integration Neuropsychology 2017;31 (2):137-148 [PubMed]
  • van Dijk Tessa, van Ruissen Fred, Jaeger Bregje, Rodenburg Richard J., Tamminga Saskia, van Maarle Merel, Baas Frank, Wolf Nicole I., Poll-The Bwee Tien RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? JIMD reports 2017;33:87-92 [PubMed]
  • Wanders Ronald J. A., Poll-The Bwee Tien "Role of peroxisomes in human lipid metabolism and its importance for neurological development" Neuroscience letters 2017;637:11-17 [PubMed]
  • Stepien Karolina M., Wierzbicki Anthony S., Poll-The Bwee T., Waterham Hans R., Hendriksz Christian J. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency JIMD reports 2017;33:49-53 [PubMed]
  • Königs Marsh, van Heurn L. W. Ernest, Bakx Roel, Vermeulen R. Jeroen, Goslings J. Carel, Poll-The Bwee Tien, van der Wees Marleen, Catsman-Berrevoets Coriene E., Oosterlaan Jaap, Pouwels Petra J. W. The Structural Connectome of Children With Traumatic Brain Injury Human brain mapping 2017;38 (7):3603-3614 [PubMed]

2016

  • Berendse Kevin, Klouwer Femke C. C., Koot Bart G. P., Kemper Elles M., Ferdinandusse Sacha, Koelfat Kiran V. K., Lenicek Martin, Schaap Frank G., Waterham Hans R., Vaz Frédéric M., Engelen Marc, Jansen Peter L. M., Wanders Ronald J. A., Poll-The Bwee Tien Cholic acid therapy in Zellweger spectrum disorders Journal of inherited metabolic disease 2016;39 (6):859-868 [PubMed]
  • Klouwer Femke C. C., Huffnagel Irene C., Ferdinandusse Sacha, Waterham Hans R., Wanders Ronald J. A., Engelen Marc, Poll-The Bwee Tien Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders Neuropediatrics 2016;47 (4):205-220 [PubMed]
  • La Piana Roberta, Cayami Ferdy K., Tran Luan T., Guerrero Kether, van Spaendonk Rosalina, Õunap Katrin, Pajusalu Sander, Haack Tobias, Wassmer Evangeline, Timmann Dagmar, Mierzewska Hanna, Poll-Thé Bwee T., Patel Chirag, Cox Helen, Atik Tahir, Onay Huseyin, Ozkınay Ferda, Vanderver Adeline, van der Knaap Marjo S., Wolf Nicole I., Bernard Geneviève Diffuse hypomyelination is not obligate for POLR3-related disorders Neurology 2016;86 (17):1622-1626 [PubMed]
  • Königs M., van Heurn L. W. E., Vermeulen R. J., Goslings J. C., Luitse J. S. K., Poll-Thé B. T., Beelen A., van der Wees M., Kemps R. J. J. K., Catsman-Berrevoets C. E., Luman M., Oosterlaan J. Feedback learning and behavior problems after pediatric traumatic brain injury Psychological medicine 2016;46 (7):1473-1484 [PubMed]
  • Wanders Ronald J. A., Aubourg Patrick, Poll-The Bwee-Tien Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disordersin: Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter, editors. Inborn Metabolic Diseases Diagnosis and Treatment (6th Edition). Berlin: Springer; 2016. p. 591-606, ISBN 9783662497769
  • Poll-The Bwee T., Wanders Ronaldus J. A., Waterham Hans R. Inherited Metabolic Disease in Adults; A Clinical Guide.in: Peroxisomal disorders. New York: Oxford University Press; 2016. p. 395-405
  • Eggens Veerle R. C. On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease 2016. 151p. ISBN 9789462993563. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Poll-The B. T.)
  • Poll-The Bwee Tien, Wanders Ronald J. A., Waterham Hans R. Peroxisomal Disordersin: Carla E.M. Hollak, Robin Lachmann, editors. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. p. 395-405, ISBN 9780199972135
  • Hollak Carla E. M., Biegstraaten Marieke, Baumgartner Matthias R., Belmatoug Nadia, Bembi Bruno, Bosch Annet, Brouwers Martijn, Dekker Hanka, Dobbelaere Dries, Engelen Marc, Groenendijk Marike C., Lachmann Robin, Langendonk Janneke G., Langeveld Mirjam, Linthorst Gabor, Morava Eva, Poll-The Bwee Tien, Rahman Shamima, Rubio-Gozalbo M. Estela, Spiekerkoetter Ute, Treacy Eileen, Wanders Ronald, Zschocke Johannes, Hagendijk Rob Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks Orphanet journal of rare diseases 2016;11 (1):7 [PubMed]
  • van Karnebeek Clara D. M., Tiebout Sylvia A., Niermeijer Jikkemien, Poll-The Bwee Tien, Ghani Aisha, Coughlin Curtis R., van Hove Johan L. K., Richter Jost Wigand, Christen Hans Juergen, Gallagher Renata, Hartmann Hans, Stockler-Ipsiroglu Sylvia Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum Pediatric neurology 2016;59:6-12 [PubMed]
  • Jaeger B., Abeling N. G., Salomons G. S., Struys E. A., Simas-Mendes M., Geukers V. G., Poll-The B. T. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation Molecular genetics and metabolism reports 2016;6:60-63 [PubMed]
  • Berendse Kevin Translational studies in Zellweger spectrum disorders 2016. 221p. ISBN 9789402802924. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll The B. T., Wanders R. J. A.)
  • Berendse Kevin, Engelen Marc, Ferdinandusse Sacha, Majoie Charles B. L. M., Waterham Hans R., Vaz Frédéric M., Koelman Johannes H. T. M., Barth Peter G., Wanders Ronald J. A., Poll-The Bwee Tien Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood Journal of inherited metabolic disease 2016;39 (1):93-106 [PubMed]

2015

  • Rosewich Hendrik, Waterham Hans, Poll-The Bwee Tien, Ohlenbusch Andreas, Gärtner Jutta Clinical utility gene card for: Zellweger syndrome spectrum European journal of human genetics 2015;23 (8):E1-E4 [PubMed]
  • van Geel Björn M., Poll-The Bwee Tien, Verrips Aad, Boelens Jaap-Jan, Kemp Stephan, Engelen Marc Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study Journal of inherited metabolic disease 2015;38 (2):359-361 [PubMed]
  • Königs Marsh, Weeda Wouter D., van Heurn L. W. Ernest, Vermeulen R. Jeroen, Goslings J. Carel, Luitse Jan S. K., Poll-Thé Bwee Tien, Beelen Anita, van der Wees Marleen, Kemps Rachèl J. J. K., Catsman-Berrevoets Coriene E., Oosterlaan Jaap Impaired Visual Integration in Children with Traumatic Brain Injury: An Observational Study PLoS ONE 2015;10 (12):e0144395 [PubMed]
  • Königs Marsh, Heij Hugo A., van der Sluijs Johannes A., Vermeulen R. Jeroen, Goslings J. Carel, Luitse Jan S. K., Poll-Thé Bwee Tien, Beelen Anita, van der Wees Marleen, Kemps Rachèl J. J. K., Catsman-Berrevoets Coriene E., Oosterlaan Jaap Pediatric Traumatic Brain Injury and Attention Deficit Pediatrics 2015;136 (3):534-541 [PubMed]
  • Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy Brain 2015;138 (2):e326 [PubMed]
  • Bramswig Nuria C., Ockeloen C. W., Czeschik J. C., van Essen A. J., Pfundt R., Smeitink J., Poll-The B. T., Engels H., Strom T. M., Wieczorek D., Kleefstra T., Lüdecke H.-J. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes Human genetics 2015;134 (10):1089-1097 [PubMed]
  • van Schaik Sander M., Reneman Liesbeth, Engelen Marc, Roos Yvo B. W. E. M., Poll-The Bwee Tien Strokelike episodes and cutis marmorata telangiectatica congenita Journal of child neurology 2015;30 (1):129-132 [PubMed]
  • Klouwer Femke C. C., Berendse Kevin, Ferdinandusse Sacha, Wanders Ronald J. A., Engelen Marc, Poll-The Bwee Tien Zellweger spectrum disorders: clinical overview and management approach Orphanet journal of rare diseases 2015;10:151 [PubMed]

2014

  • Brandsma Rick, Spits Anne H., Kuiper Marieke J., Lunsing Roelinka J., Burger Huibert, Kremer Hubertus P., Sival Deborah A., Barisic N., Baxter P., Brankovic-Sreckovic V., Calabrò G. E., Catsman-Berrevoets C., de Coo Ifm, Craiu D., Dan B., Gburek-Augustat J., Kammoun-Feki F., Kennedy C., Mancini F., Mirabelli-Badenier M., Nemeth A., Newton R., Poll-The B. T., Steinlin M., Synofzik M., Topcu M., Triki C., Valente E. M. Ataxia rating scales are age-dependent in healthy children Developmental medicine and child neurology 2014;56 (6):556-563 [PubMed]
  • Wolf Nicole I., Vanderver Adeline, van Spaendonk Rosalina M. L., Schiffmann Raphael, Brais Bernard, Bugiani Marianna, Sistermans Erik, Catsman-Berrevoets Coriene, Kros Johan M., Pinto Pedro Soares, Pohl Daniela, Tirupathi Sandya, Strømme Petter, de Grauw Ton, Fribourg Sébastien, Demos Michelle, Pizzino Amy, Naidu Sakkubai, Guerrero Kether, van der Knaap Marjo S., Bernard Geneviève, Benko William, Boltshauser Eugen, Bonkowsky Joshua, Brouwer Oebele F., Brozova Klara, Champaigne Neena L., Cimas Icíar, Clough Christopher, Cohen Ana, Collins Abigail, Corenblum Bernard, Dai Lanlan, Dolan Gail, Faletra Flavio, Fernandez Raymond, Eugenia Garcia Garcia Maria, Gasparini Paolo, Gburek-Augustat Janina, Gibson William, Gonzalez Moron Dolores, Guo Yiran, Hakonarson Hakon, Hamati Aline, Harms Nils, Harting Inga, Hertzberg Christoph, Hill Alan, Hobson Grace, Poll-Thé Bwee-Tien Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations Neurology 2014;83 (21):1898-1905 [PubMed]
  • Caan Matthan W. A., Barth Peter G., Niermeijer Jikke-Mien, Majoie Charles B., Poll-The Bwee Tien Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia European journal of paediatric neurology : EJPN 2014;18 (3):434-438 [PubMed]
  • Eggens Veerle Rc, Barth Peter G., Niermeijer Jikke-Mien F., Berg Jonathan N., Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D., Makrythanasis Periklis, Máté Adrienn, Nicoll James A. R., O'Rourke Declan, Price Sue, Williams Andrew N., Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B., van Meegen Mia T., van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A., Poll-Thé Bwee Tien, Baas Frank EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Orphanet journal of rare diseases 2014;9 (1):23 [PubMed]
  • Berendse Kevin, Engelen Marc, Linthorst Gabor E., van Trotsenburg A. S. Paul, Poll-The Bwee Tien High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders Orphanet journal of rare diseases 2014;9:133 [PubMed]
  • de Roo Marieke G. A., Abeling Nico G. G. M., Majoie Charles B., Bosch Annet M., Koelman Johannes H. T. M., Cobben Jan M., Duran Marinus, Poll-The Bwee Tien Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures Molecular genetics and metabolism 2014;111 (3):404-407 [PubMed]
  • Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M. A., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan X-linked adrenoleukodystrophy in women: a cross-sectional cohort study Brain 2014;137 (Part 3):693-706 [PubMed]
  • Engelen Marc, Kemp Stephan, Poll-The Bwee-Tien X-linked adrenoleukodystrophy: pathogenesis and treatment Current neurology and neuroscience reports 2014;14 (10):486 [PubMed]

2013

  • Berendse Kevin, Ebberink Merel S., Ijlst Lodewijk, Poll-The Bwee Tien, Wanders Ronald J. A., Waterham Hans R. Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder Orphanet journal of rare diseases 2013;8 (1):138 [PubMed]
  • Stalpers Xenia L., Verrips Aad, Poll-The Bwee Tien, Cobben Jan-Maarten, Snoeck Irina N., de Coo Irenaeus F. M., Brooks Alice, Bulk Saskia, Gooskens Rob, Fock Annemarie, Verschuuren-Bemelmans Corien, Sinke Richard J., de Visser Marianne, Lemmink Henny H. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands Neuromuscular disorders 2013;23 (6):461-468 [PubMed]
  • Demirdas Serwet, van Kessel Imke N., Korndewal Marjolein J., Hollak Carla E. M., Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J., Bosch Annet M., Asselbergs Folkert W., Blank Christiaan, Derks Terry G. J., Diekman Eugène F., Dijsselhof Monique E., Engelen Marc, van Hasselt Peter M., ter Horst Nienke M., van den Hurk Dorine A. M., Janssen Mirian C. H., Karstens Francois P. J., van der Louw Elles, Morava Eva, Nicolai Joost, van de Pol Ludo, Poll-The Bwee Tien, Rubio-Gozalbo Estela, Smit G. Peter A., de Ruijter Jessica, Timmer Corrie, Touw Catharina M. L., Visser Gepke, de Valk Harold W., Wijburg Frits A., Williams Monique Clinical pathways for inborn errors of metabolism: warranted and feasible Orphanet journal of rare diseases 2013;8 (1):37 [PubMed]
  • Engelen Marc, Ofman Rob, Dijkgraaf Marcel, van Geel Bjorn, de Visser Marianne, Wanders Ronald, Poll-The Bwee Tien, Kemp Stephan Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit" Clinical neurology and neurosurgery 2013;115 (11):2401-2402 [PubMed]
  • Valayannopoulos Vassili, Poll-The Bwee Tien Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2013;113:1553-1562 [PubMed]
  • Houten Sander M., te Brinke Heleen, Denis Simone, Ruiter Jos Pn, Knegt Alida C., de Klerk Johannis Bc, Augoustides-Savvopoulou Persephone, Häberle Johannes, Baumgartner Matthias R., Coşkun Turgay, Zschocke Johannes, Sass Jörn Oliver, Poll-The Bwee Tien, Wanders Ronald Ja, Duran Marinus Genetic basis of hyperlysinemia Orphanet journal of rare diseases 2013;8 (1):57 [PubMed]
  • van Arnhem Lotus A., Bunders Madeleine J., Scherpbier Henriette J., Majoie Charles B. L. M., Reneman Liesbeth, Frinking Olivier, Poll-The Bwee Tien, Kuijpers Taco W., Pajkrt Dasja Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy PLoS ONE 2013;8 (5):e64398 [PubMed]
  • Weterman Marian A. J., Barth Peter G., van Spaendonck-Zwarts Karin Y., Aronica Eleonora, Poll-The Bwee-Tien, Brouwer Oebele F., van Tintelen J. Peter, Qahar Zohal, Bradley Edward J., de Wissel Marit, Salviati Leonardo, Angelini Corrado, van den Heuvel Lambertus, Thomasse Yolande E. M., Backx Ad P., Nürnberg Gudrun, Nürnberg Peter, Baas Frank Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy Brain 2013;136 (1):282-293 [PubMed]
  • Hagebeuk Eveline E. O. Rett syndrome: neurologic and metabolic aspects 2013. 144p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Poll-The B. T.; Co-supervisors: Duran M., Koelman J. H. T. M.)
  • Huffnagel Irene C., Clur Sally-Ann B., Bams-Mengerink Annemieke M., Blom Nico A., Wanders Ronald J. A., Waterham Hans R., Poll-The Bwee Tien Rhizomelic chondrodysplasia punctata and cardiac pathology Journal of medical genetics 2013;50 (7):419-424 [PubMed]
  • Hagebeuk Eveline E. O., Duran Marinus, Abeling Nico G. G. M., Vyth Arno, Poll-The Bwee Tien S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation Journal of inherited metabolic disease 2013;36 (6):967-972 [PubMed]
  • Bams-Mengerink Annemieke M., Koelman Johannes Htm, Waterham Hans, Barth Peter G., Poll-The Bwee Tien The neurology of rhizomelic chondrodysplasia punctata Orphanet journal of rare diseases 2013;8 (1):174 [PubMed]

2012

  • Engelen Marc, Tran Luc, Ofman Rob, Brennecke Josephine, Moser Ann B., Dijkstra Inge M. E., Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Bezafibrate for X-Linked Adrenoleukodystrophy PLoS ONE 2012;7 (7):e41013 [PubMed]
  • Engelen Marc, Schackmann Martin J. A., Ofman Rob, Sanders Robert-Jan, Dijkstra Inge M. E., Houten Sander M., Fourcade Stéphane, Pujol Aurora, Poll-The Bwee Tien, Wanders Ronald J. A., Kemp Stephan Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation Journal of inherited metabolic disease 2012;35 (6):1137-1145 [PubMed]
  • Poll-The Bwee Tien, Gärtner Jutta Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2012;1822 (9):1421-1429 [PubMed]
  • Hagebeuk Eveline E. O., Duran Marinus, Koelman Johannes H. T. M., Abeling Nicolaas G. G. M., Vyth Arno, Poll-The Bwee-Tien Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study Journal of child neurology 2012;27 (3):304-309 [PubMed]
  • Ketelslegers I. A., Catsman-Berrevoets C. E., Neuteboom R. F., Boon M., van Dijk K. G. J., Eikelenboom M. J., Gooskens R. H. J. M., Niks E. H., Overweg-Plandsoen W. C. G., Peeters E. A. J., Peeters-Scholte C. M. P. C. D., Poll-The B. T., de Rijk-van Andel J. F., Samijn J. P. A., Snoeck I. N., Stroink H., Vermeulen R. J., Verrips A., Vles J. S. H., Willemsen M. A. A. P., Rodrigues Pereira R., Hintzen R. Q. Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study Journal of neurology 2012;259 (9):1929-1935 [PubMed]
  • Voets A. M., Lindsey P. J., Vanherle S. J., Timmer E. D., Esseling J. J., Koopman W. J. H., Willems P. H. G. M., Schoonderwoerd G. C., de Groote D., Poll-The B. T., de Coo I. F. M., Smeets H. J. M. Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 2012;1817 (11):1971-1978 [PubMed]
  • Poll-The Bwee Tien, Aubourg Patrick, Wanders Ronald J. A. Peroxisomal Disorders [Chapter 41]in: Jean-Marie Saudubray, Georges van den Berghe, John H. Walter, editors. Inborn Metabolic Diseases. Diagnosis and Treatment [5th edition]. Berlin Heidelberg New York: Springer-Verlag; 2012. p. 591-605, ISBN 9783642157196
  • Poll-The Bwee Tien, Engelen Marc Peroxisomal Leukoencephalopathy Seminars in neurology 2012;32 (1):42-50 [PubMed]
  • Namavar Yasmin, Barth Peter G., Baas Frank, Poll-The Bwee Tien Reply: Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4 Brain 2012;135 (1):e200
  • Hagebeuk Eveline E. O., Bijlmer Rob P. G. M., Koelman Johannes H. T. M., Poll-The Bwee Tien Respiratory Disturbances in Rett Syndrome: Don't Forget to Evaluate Upper Airway Obstruction Journal of child neurology 2012;27 (7):888-892 [PubMed]
  • Friedman Jennifer, Roze Emmanuel, Abdenur Jose E., Chang Richard, Gasperini Serena, Saletti Veronica, Wali Gurusidheshwar M., Eiroa Hernan, Neville Brian, Felice Alex, Parascandalo Ray, Zafeiriou Dimitrios I., Arrabal-Fernandez Luisa, Dill Patricia, Eichler Florian S., Echenne Bernard, Gutierrez-Solana Luis G., Hoffmann Georg F., Hyland Keith, Kusmierska Katarzyna, Tijssen Marina A. J., Lutz Thomas, Mazzuca Michel, Penzien Johann, Poll-The Bwee Tien, Sykut-Cegielska Jolanta, Szymanska Krystyna, Thöny Beat, Blau Nenad Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy Annals of neurology 2012;71 (4):520-530 [PubMed]
  • Engelen Marc Translational studies in X-linked adrenoleukodystrophy 2012. 135p. ISBN 9789461914743. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll-The B. T., de Visser M.; Co-supervisors: Kemp S., van Geel B. M.)
  • Engelen Marc, Kemp Stephan, de Visser Marianne, van Geel Björn M., Wanders Ronald J. A., Aubourg Patrick, Poll-The Bwee Tien X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management: Clinical presentation and guidelines for diagnosis, follow-up and management Orphanet journal of rare diseases 2012;7 (1) [PubMed]

2011

  • Namavar Yasmin, Barth Peter G., Poll-The Bwee Tien, Baas Frank Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia Orphanet journal of rare diseases 2011;6 (1):50 [PubMed]
  • Hagebeuk Eveline E. O., Koelman Johannes H. T. M., Duran Marinus, Abeling Nico G., Vyth Arno, Poll-The Bwee-Tien Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients Journal of child neurology 2011;26 (6):718-723 [PubMed]
  • Namavar Yasmin, Barth Peter G., Kasher Paul R., van Ruissen Fred, Brockmann Knut, Bernert Günther, Writzl Karin, Ventura Karen, Cheng Edith Y., Ferriero Donna M., Basel-Vanagaite Lina, Eggens Veerle R. C., Krägeloh-Mann Ingeborg, de Meirleir Linda, King Mary, Graham John M., von Moers Arpad, Knoers Nine, Sztriha Laszlo, Korinthenberg Rudolf, Dobyns William B., Baas Frank, Poll-The Bwee Tien, van der Aa Nathalie, Arts Willem F. M., Ades Lesley C., Bahi-Buisson Nadia, Battini Roberta, Bodamer Olaf, Boltshauser Eugen, Boycott Kym, Brueton Louise, Brussel Wim, Chandler K. E., Cowan Frances M., Crow Yanick, Debus Otfried, Demir Ercan, Hastanesi Gazi, Eason Jacqueline, Ferrie Colin D., Fisher Richard B., Foulds Nicola, Freeman Jeremy L., Gooskens Rob, Haeussler Martin, Hageman Gerard, Hammersen Gerhard, Horn Denise, Tijssen Marina A. J. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia Brain 2011;134 (Part 1):143-156 [PubMed]
  • Bloemenkamp D. G. M., Poll-The B. T., Majoie C. B. Een neonaat met ontwikkelingsachterstand Nederlands tijdschrift voor geneeskunde 2011;155 (9):A1561 [PubMed]
  • Namavar Yasmin Pontocerebellar hypoplasia: from gene to disease 2011. 189p. ISBN 9789461910141. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Baas F., Poll-The B. T.; Co-supervisor: Barth P. G.)
  • Piepers Sanne, Cobben Jan-Maarten, Sodaar Peter, Jansen Marc D., Wadman Renske I., Meester-Delver Ann, Poll-The Bwee Tien, Lemmink Henny H., Wokke John H. J., van der Pol W.-Ludo, van den Berg Leonard H. Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid Journal of neurology, neurosurgery, and psychiatry 2011;82 (8):850-852 [PubMed]
  • Poll-The B. T., Maillette de Buy Wenniger-Prick C. J. The eye in metabolic diseases: clues to diagnosis European journal of paediatric neurology : EJPN 2011;15 (3):197-204 [PubMed]
  • Namavar Yasmin, Chitayat David, Barth Peter G., van Ruissen Fred, de Wissel Marit B., Poll-The Bwee Tien, Silver Rachel, Baas Frank TSEN54 mutations cause pontocerebellar hypoplasia type 5 European journal of human genetics 2011;19 (6):724-726 [PubMed]
  • Poll The Bwee Tien, Engelen Marc X-gebonden adrenoleucodystrofie (X-ALD)in: E. Carbasius-Weber, Merel van Veen, Gepke Visser, editors. Dieet bij Metabole Ziekten. Utrecht: WKZ/UMC Utrecht; 2011. p. 278-289, ISBN 9789081745703

2010

  • Ketelslegers I. A., Neuteboom R. F., Boon M., Catsman-Berrevoets C. E., Hintzen R. Q., van Dijk K. G. J., Eikelenboom M. J., Gooskens R. H. J. M., Peeters E. A. J., Poll-The B. T., de Rijk-van Andel J. F., Rotteveel J. J., Samijn J. P. A., Snoeck I. N., Stroink H., Vermeulen R. J., Verrips A., Vles J. S. H., Willemsen M. A. A. P. A comparison of MRI criteria for diagnosing pediatric ADEM and MS Neurology 2010;74 (18):1412-1415 [PubMed]
  • Neuteboom Rinze F., Ketelslegers Immy A., Boon Maartje, Catsman-Berrevoets Coriene E., Hintzen Rogier Q., Vles J. S. H., Gooskens R. H. J. M., Stroink H., Vermeulen R. J., Eikelenboom J., Rotteveel J. J., Peeters E. A. J., Snoeck I. N., Poll-The B. T., de Rijk-van Andel J. F., Heersema D. J., Verrips A., Samijn J. P. A., van Dijk K., Willemsen M. A. A. P. Barkhof magnetic resonance imaging criteria predict early relapse in pediatric multiple sclerosis Pediatric neurology 2010;42 (1):53-55 [PubMed]
  • Leen Wilhelmina G., Klepper Joerg, Verbeek Marcel M., Leferink Maike, Hofste Tom, van Engelen Baziel G., Wevers Ron A., Arthur Todd, Bahi-Buisson Nadia, Ballhausen Diana, Bekhof Jolita, van Bogaert Patrick, Carrilho Inês, Chabrol Brigitte, Champion Michael P., Coldwell James, Clayton Peter, Donner Elizabeth, Evangeliou Athanasios, Ebinger Friedrich, Farrell Kevin, Forsyth Rob J., de Goede Christian G. E. L., Gross Stephanie, Grunewald Stephanie, Holthausen Hans, Jayawant Sandeep, Lachlan Katherine, Laugel Vincent, Leppig Kathy, Lim Ming J., Mancini Grazia, Marina Adela Della, Martorell Loreto, McMenamin Joe, Meuwissen Marije E. C., Mundy Helen, Nilsson Nils O., Panzer Axel, Poll-The Bwee T., Rauscher Christian, Rouselle Christophe M. R., Sandvig Inger, Scheffner Thomas, Sheridan Eamonn, Simpson Neil, Sykora Parol, Tomlinson Richard, Trounce John, Webb David, Weschke Bernhard, Scheffer Hans, Willemsen Michél A. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Brain 2010;133 (Part 3):655-670 [PubMed]
  • Kroes Hester Y., van Zanten Bert G. A., de Ru Sander A., Boon Maartje, Mancini Grazia M. S., van der Knaap Marjo S., Poll-The Bwee Tien, Lindhout Dick Is hearing loss a feature of Joubert syndrome, a ciliopathy? International journal of pediatric otorhinolaryngology 2010;74 (9):1034-1038 [PubMed]
  • Engelen Marc, Ofman Rob, Dijkgraaf Marcel G. W., Hijzen Michiel, van der Wardt Lucinda A., van Geel Bjorn M., de Visser Marianne, Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Lovastatin in X-Linked Adrenoleukodystrophy New England journal of medicine 2010;362 (3):276-277 [PubMed]
  • Berfelo Florieke J., Kersbergen Karina J., van Ommen C. H. Heleen, Govaert Paul, van Straaten H. L. M. Irma, Poll The Bwee Tien, van Wezel-Meijler Gerda, Vermeulen R. Jeroen, Groenendaal Floris, de Vries Linda S., de Haan Timo R. Neonatal cerebral sinovenous thrombosis from symptom to outcome Stroke; a journal of cerebral circulation 2010;41 (7):1383-1388 [PubMed]
  • Vellinga D., Poll-The B. T., van Doorn R., Lavrijsen A. P. M. Status na collodion: Een hypotone peuter met geprononceerde huidlijnen: Sjogren-larssonsyndroom Nederlands tijdschrift voor dermatologie en venereologie 2010;220 (6):320-321
  • Bok Levinus A., Maurits Natasha M., Willemsen Michèl A., Jakobs Cornelis, Teune Laura K., Poll-The Bwee Tien, de Coo Irenaeus F., Toet Mona C., Hagebeuk Eveline E., Brouwer Oebele F., van der Hoeven Johannes H., Sival Deborah A. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy Epilepsia 2010;51 (12):2406-2411 [PubMed]

2009

  • Houtkooper Riekelt H., Rodenburg Richard J., Thiels Charlotte, van Lenthe Henk, Stet Femke, Poll-The Bwee Tien, Stone Janet E., Steward Colin G., Wanders Ronald J., Smeitink Jan, Kulik Willem, Vaz Frédéric M. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome Analytical biochemistry 2009;387 (2):230-237 [PubMed]
  • van den Tweel Xandra W., Nederveen Aart J., Majoie Charles B. L. M., van der Lee Johanna H., Wagener-Schimmel Laetitia, van Walderveen Marianne A. A., Poll The Bwee Tien, Nederkoorn Paul J., Heijboer Harriët, Fijnvandraat Karin Cerebral blood flow measurement in children with sickle cell disease using continuous arterial spin labeling at 3.0-Tesla MRI Stroke; a journal of cerebral circulation 2009;40 (3):795-800 [PubMed]
  • Stam A. H., Luijckx G.-J., Poll-Thé B. T., Ginjaar I. B., Frants R. R., Haan J., Ferrari M. D., Terwindt G. M., van den Maagdenberg A. M. J. M. Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation Journal of neurology, neurosurgery, and psychiatry 2009;80 (10):1125-1129 [PubMed]
  • Poll The B. W., Jaeken J., Smeitink J. A. M., Duran M. Erfelijke stofwisselingsziektenin: J. L. van de Brande, G. Derksen-Lubsen, H. S. A. Heymans, L. A. A. Kollee, editors. Leerboek Kindergeneeskunde. Utrecht: De Tijdstroom; 2009. p. 173-184
  • Houtkooper Riekelt H., Turkenburg Marjolein, Poll-The Bwee Tien, Karall Daniela, Pérez-Cerdá Celia, Morrone Amelia, Malvagia Sabrina, Wanders Ronald J., Kulik Willem, Vaz Frédéric M. The enigmatic role of tafazzin in cardiolipin metabolism BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2009;1788 (10):2003-2014 [PubMed]
  • Blok M. J., van den Bosch B. J., Jongen E., Hendrickx A., de Die-Smulders C. E., Hoogendijk J. E., Brusse E., de Visser M., Poll-The B. T., Bierau J., de Coo I. F., Smeets H. J. The unfolding clinical spectrum of POLG mutations Journal of medical genetics 2009;46 (11):776-785 [PubMed]

2008

  • Ferdinandusse Sacha, Zomer Anna W. M., Komen Jasper C., van den Brink Christina E., Thanos Melissa, Hamers Frank P. T., Wanders Ronald J. A., van der Saag Paul T., Poll-The Bwee Tien, Brites Pedro Ataxia with loss of Purkinje cells in a mouse model for Refsum disease Proceedings of the National Academy of Sciences of the United States of America 2008;105 (46):17712-17717 [PubMed]
  • Engelen M., Ofman R., Mooijer P. A. W., Poll-The B. T., Wanders R. J. A., Kemp S. Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2008;1781 (3):105-111 [PubMed]
  • Menke Leonie A., Poll-The Bwee Tien, Clur Sally-Ann, Bilardo Catia M., van der Wal Allard C., Lemmink Henny H., Cobben Jan Maarten Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature American journal of medical genetics. Part A 2008;146A (6):740-744 [PubMed]
  • Neuteboom R. F., Boon M., Berrevoets C. E. Catsman, Vles J. S., Gooskens R. H., Stroink H., Vermeulen R. J., Rotteveel J. J., Ketelslegers I. A., Peeters E., Poll-The B. T., de Rijk-van Andel J. F., Verrips A., Hintzen R. Q. Prognostic factors after a first attack of inflammatory CNS demyelination in children Neurology 2008;71 (13):967-973 [PubMed]
  • Barth Peter G., Ryan Monique M., Webster Richard I., Aronica Eleonora, Kan Alex, Ramkema Marja, Jardine Philip, Poll-The Bwee Tien Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2) Neuromuscular disorders 2008;18 (1):52-58 [PubMed]
  • Budde Birgit S., Namavar Yasmin, Barth Peter G., Poll-The Bwee Tien, Nürnberg Gudrun, Becker Christian, van Ruissen Fred, Weterman Marian A. J., Fluiter Kees, te Beek Erik T., Aronica Eleonora, van der Knaap Marjo S., Höhne Wolfgang, Toliat Mohammad Reza, Crow Yanick J., Steinlin Maja, Voit Thomas, Roelens Filip, Brussel Wim, Brockmann Knut, Kyllerman Marten, Boltshauser Eugen, Hammersen Gerhard, Willemsen Michèl, Basel-Vanagaite Lina, Krägeloh-Mann Ingeborg, de Vries Linda S., Sztriha Laszlo, Muntoni Francesco, Ferrie Colin D., Battini Roberta, Hennekam Raoul C. M., Grillo Eugenio, Beemer Frits A., Stoets Loes M. E., Wollnik Bernd, Nürnberg Peter, Baas Frank tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nature genetics 2008;40 (9):1113-1118 [PubMed]

2007

  • Williams M., Huijmans J. G. M., Duran M., de Klerk J. B. C., van Maldegem B. T., Poll-The B. T. Lactaatacidose en glutamaatophoping in het bloed van neonaten na behandeling met calciumlevulaat wegens hypocalciëmie Nederlands tijdschrift voor geneeskunde 2007;151 (21):1191-1196 [PubMed]
  • Ng Bobby G., Kranz Christian, Hagebeuk E. E. O., Duran M., Abeling N. G. G. M., Wuyts B., Ungar Daniel, Lupashin Vladimir, Hartdorff C. M., Poll-The B. T., Freeze Hudson H. Molecular and clinical characterization of a Moroccan Cog7 deficient patient Molecular genetics and metabolism 2007;91 (2):201-204 [PubMed]
  • Horn M. A., van den Brink D. M., Wanders R. J. A., Duran M., Poll-The B. T., Tallaksen C. M. E., Stokke O. H., Moser H., Skjeldal O. H. Phenotype of adult Refsum disease due to a defect in peroxin 7 Neurology 2007;68 (9):698-700 [PubMed]
  • van Heteren J. T., van der Knaap M. S., Poll The B. W., Kuijpers T. W. Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome Neuropediatrics 2007;38 (6):269-275 [PubMed]
  • Barth Peter G., Majoie Charles B., Caan Matthan W. A., Weterman Marian A. J., Kyllerman Marten, Smit Leo M. E., Kaplan Richard A., Haas Richard H., Baas Frank, Cobben Jan-Maarten, Poll-The Bwee Tien Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance Brain 2007;130 (Part 9):2258-2266 [PubMed]
  • Barth Peter G., Aronica Eleonora, de Vries Linda, Nikkels Peter G. J., Scheper Wiep, Hoozemans Jeroen J., Poll-The Bwe-Tien, Troost Dirk Pontocerebellar hypoplasia type 2: a neuropathological update Acta neuropathologica 2007;114 (4):373-386 [PubMed]
  • Benninga M. A., Lilien M., de Koning T. J., Duran M., Versteegh F. G. A., Goldschmeding R., Poll-The B. T. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance Journal of inherited metabolic disease 2007;30 (3):402-403 [PubMed]
  • Watkins Paul A., Hamilton James A., LeBoeuf Renee, Moser Hugo, Spector Arthur, Bazan Nicolas, Salem Norman, Niu Shui-Lin, Rebeck William, Purdon David, Kim Hee-Yong, Montine Thomas, Vance Jean, Raymond Gerald, Murphy Eric, Poll-The Bwee Tien, Hibbeln Joseph, Katz Robert Roundtable discussion of session 4: Fatty acids and lipids in brain disorders Journal of molecular neuroscience 2007;33 (1):120-124 [PubMed]

2006

  • Bikker H., Bakker H. D., Abeling N. G. G. M., Poll-The B. T., Kleijer W. J., Rosenblatt D. S., Waterham H. R., Wanders R. J. A., Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria Human mutation 2006;27 (7):640-643 [PubMed]
  • Vergouwen Mervyn D. I., Majoie Charles B. L. M., van Rooij Willem-Jan J., Poll-The Bwee-Tien A vertebro-vertebral fistula as a complication of a jugular line Journal of pediatrics 2006;149 (4):576 [PubMed]
  • Ferdinandusse Sacha, Denis Simone, Mooyer Petra A. W., Dekker Conny, Duran Marinus, Soorani-Lunsing Roelineke J., Boltshauser Eugen, Macaya Alfons, Gärtner Jutta, Majoie Charles B. L. M., Barth Peter G., Wanders Ronald J. A., Poll-The Bwee Tien Clinical and biochemical spectrum of D-bifunctional protein deficiency Annals of neurology 2006;59 (1):92-104 [PubMed]
  • van Woerden Christiaan S., Groothoff Jaap W., Wijburg Frits A., Duran Marinus, Wanders Ronald J. A., Barth Peter G., Poll-The Bwee Tien High incidence of hyperoxaluria in generalized peroxisomal disorders Molecular genetics and metabolism 2006;88 (4):346-350 [PubMed]
  • Menke L. A., Poll-The B. T., Rozemuller J. M., LoAnJoe S. M., Lemmink H. H., Cobben J. M. Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van Werdnig-Hofmann Tijdschrift voor kindergeneeskunde 2006;74:184-187
  • Bams-Mengerink A. M., Majoie C. B. L. M., Duran M., Wanders R. J. A., van Hove J., Scheurer C. D., Barth P. G., Poll-The B. T. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata Neurology 2006;66 (6):798-803; discussion 789 [PubMed]
  • Poll-The B. T., Aubourg P., Wanders R. J. A. Peroxisomal disordersin: J. Fernandes, J. M. Saudubray, G. van den Berghe, editors. Inborn metabolic diseases. Diagnosis and treatment. S.l.: s.n.; 2006. p. 511-521
  • Abeling Nico G., Duran Marinus, Bakker Henk D., Stroomer Lida, Thöny Beat, Blau Nenad, Booij Jan, Poll-The Bwee Tien Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia Molecular genetics and metabolism 2006;89 (1-2):116-120 [PubMed]
  • Mourmans J., Majoie C. B. L. M., Barth P. G., Duran M., Akkerman E. M., Poll-The B. T. Sequential MR imaging changes in nonketotic hyperglycinemia AJNR. American journal of neuroradiology 2006;27 (1):208-211 [PubMed]
  • Weisfelt Martijn, Poll-The Bwee Tien, Hennekam Raoul C. M. Severe neurological complications in skeletal dysplasias: two case reports European journal of paediatric neurology : EJPN 2006;10 (5-6):241-243 [PubMed]
  • Schade van Westrum Steven M., Nederkoorn Paul J., Schuurman P. Richard, Vulsma Tom, Duran Marinus, Poll-The Bwee Tien Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA Journal of pediatrics 2006;148 (1):115-117 [PubMed]

2005

  • Aronica E., van Kempen A. A. M. W., van der Heide M., Poll-The B. T., van Slooten H. J., Troost D., Rozemuller-Kwakkel J. M. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology Acta neuropathologica 2005;109 (4):433-442 [PubMed]
  • de Meer K., Roef M. J., de Klerk J. B. C., Bakker H. D., Smit G. P. A., Poll-The B. T. Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency Journal of inherited metabolic disease 2005;28 (1):95-98 [PubMed]
  • Poll-The B. T., Wevers R. A., Duran M. Klinisch-biochemische geneticain: Emilia K. Bijlsma, editors. Leerboek Medische genetica. Maarssen: Elsevier gezondheidszorg; 2005., ISBN 9789035227705
  • Soorani-Lunsing R. J., van Spronsen F. J., Stolte-Dijkstra I., Wanders R. J., Ferdinandusse S., Waterham H. R., Poll-The B. T., Rake J. P. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall Journal of inherited metabolic disease 2005;28 (6):1172-1174 [PubMed]
  • Cleary M. A., Dorland L., de Koning T. J., Poll-The B. T., Duran M., Mandell R., Shih V. E., Berger R., Olpin S. E., Besley G. T. N. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation Journal of inherited metabolic disease 2005;28 (5):673-679 [PubMed]

2004

  • Tabbers M. M., van Kempen A. A. M. W., Duran M., Brand M. E., Bosman D. K., Wanders R. J. A., Poll-The B. T. Een pasgeborene met een zeldzame oorzaak van cholestase; een peroxisomale ziekte Tijdschrift voor kindergeneeskunde 2004;72 (2):60-65
  • Sjarif Damayanti R., Hellerud Christina, Ploos van Amstel Johannes K., Kleijer Willem J., Sperl Wolfgang, Lacombe Didier, Sass Jõrn Oliver, Beemer Frits A., Duran Marinus, Poll-The Bwee Tien Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation European journal of human genetics 2004;12 (6):424-432 [PubMed]
  • Peduto Antonella, Baumgartner Matthias R., Verhoeven Nanda M., Rabier Daniel, Spada Marco, Nassogne Marie-Cecile, Poll-The Bwee-Tien T., Bonetti Giovanni, Jakobs Cornelis, Saudubray Jean-Marie Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders Molecular genetics and metabolism 2004;82 (3):224-230 [PubMed]
  • Poll-The B. T., Duran M. Inherited metabolic disease and nutritionin: Y. Poortman, R. Steegers, C. Kluft, editors. The increasing role of nutrition and genomics in the prevention and management of disease. S.l.: s.n.; 2004.
  • Majoie Charles B. L. M., Mourmans Jeroen M., Akkerman Erik M., Duran Marinus, Poll-The Bwee Tien Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings AJNR. American journal of neuroradiology 2004;25 (1):32-35 [PubMed]
  • Barth P. G., Majoie C. B. L. M., Gootjes J., Wanders R. J. A., Waterham H. R., van der Knaap M. S., de Klerk J. B. C., Smeitink J., Poll-The B. T. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival Neurology 2004;62 (3):439-444 [PubMed]
  • ter Rahe Birgitta S. M., Majoie Charles B. L. M., Akkerman Erik M., den Heeten Gerard J., Poll-The Bwee T., Barth Peter G. Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings AJNR. American journal of neuroradiology 2004;25 (6):1022-1027 [PubMed]
  • Wanders R. J. A., Duran M., Poll-The B. T., Waterham H. R. Peroxisomale ziekten: metabole en moleculaire basis en laboratoriumdiagnostiek Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2004;29:2-23
  • Poll-The Bwee Tien, Gootjes Jeannette, Duran Marinus, de Klerk Johannis B. C., Maillette de Buy Wenniger-Prick Liesbeth J., Admiraal Ronald J. C., Waterham Hans R., Wanders Ronald J. A., Barth Peter G. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients American journal of medical genetics. Part A 2004;126A (4):333-338 [PubMed]
  • Poll-The Bwee Tien, Wanders Ronald J. A., Ruiter Jos P. N., Ofman Rob, Majoie Charles B. L. M., Barth Peter G., Duran Marinus Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases Molecular genetics and metabolism 2004;81 (4):295-299 [PubMed]

2003

  • Ofman Rob, Ruiter Jos P. N., Feenstra Marike, Duran Marinus, Poll-The Bwee Tien, Zschocke Johannes, Ensenauer Regina, Lehnert Willy, Sass Jörn Oliver, Sperl Wolfgang, Wanders Ronald J. A. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene American journal of human genetics 2003;72 (5):1300-1307 [PubMed]
  • Gootjes Jeannette, Mooijer Petra A. W., Dekker Conny, Barth Peter G., Poll-The Bwee Tien, Waterham Hans R., Wanders Ronald J. A. Biochemical markers predicting survival in peroxisome biogenesis disorders Advances in experimental medicine and biology 2003;544:67-68 [PubMed]
  • Hessels J., Voortman G., Holtus F., Poll-The B. T., Duran M. Ernstige hypoglykemische crisis met fatale afloop bij een twee-jarig kind Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2003;28:328-332
  • Bosch A. M., de Klerk J. B. C., Poll-The B. T., van Spronsen F. J., Wanders R. J. A., Bakker H. D. Galactosemie in Nederland, opnieuw beschouwd Tijdschrift voor kindergeneeskunde 2003;71 (2):49
  • Langius Fernanda A. A., Waterham Hans R., Romeijn Gerrit Jan, Oostheim Wendy, de Barse Martina M. J., Dorland Lambertus, Duran Marinus, Beemer Frits A., Wanders Ronald J. A., Poll-The Bwee Tien Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome American journal of medical genetics. Part A 2003;122A (1):24-29 [PubMed]
  • de Koning Tom J., Snell Keith, Duran Marinus, Berger Ruud, Poll-The Bwee-Tien, Surtees Robert L-serine in disease and development Biochemical journal 2003;371 (Part 3):653-661 [PubMed]
  • Wanders R. J. A., Barth P. G., Poll-The B. T. Peroxisomal disordersin: N. Blau, M. E. Blaskovics, M. Duran, K. M. Gibson, editors. Physician's guide to the laboratory dignosis of metabolic diseases. Berlin Heidelberg New York: Springer-Verlag; 2003. p. 481-508, ISBN 9783540425427
  • Roels Frank, Saudubray Jean-Marie, Giros Marisa, Mandel Hanna, Eyskens François, Saracibar Nieves, Atares Pueyo Begoña, Prats Jose M., de Prest Betty, de Preter Kathleen, Pineda Mercedes, Krystkowiak Pierre, Gootjes Jeannette, Wanders Ronald J. A., Espeel Marc, Poll-The Bwee Tien Peroxisome mosaics Advances in experimental medicine and biology 2003;544:97-106 [PubMed]
  • Zomer Anna W. M., van der Saag Paul T., Poll-The Bwee Tien Phytanic and pristanic acid are naturally occuring ligands Advances in experimental medicine and biology 2003;544:247-254 [PubMed]
  • Baas J. C. M., van de Laar R., Dorland L., Duran M., Berger R., Poll-The B. T., de Koning T. J. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease Journal of inherited metabolic disease 2003;25 (8):699-701 [PubMed]
  • Poll-The B. T., Maillette de Buy Wenniger-Prick L. J., Barth P. G., Duran M. The eye as a window to inborn errors of metabolism Journal of inherited metabolic disease 2003;26 (2-3):229-244 [PubMed]
  • van den Hout Hannerieke M. P., Hop Wim, van Diggelen Otto P., Smeitink Jan A. M., Smit G. Peter A., Poll-The Bwee-Tien T., Bakker Henk D., Loonen M. Christa B., de Klerk Johannis B. C., Reuser Arnold J. J., van der Ploeg Ans T. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature Pediatrics 2003;112 (2):332-340 [PubMed]

2002

  • Gootjes J., Mooijer P. A. W., Dekker C., Barth P. G., Poll-The B. T., Waterham H. R., Wanders R. J. A. Biochemical markers predicting survival in peroxisome biogenesis disorders Neurology 2002;59 (11):1746-1749 [PubMed]
  • de Koning T. J., Duran M., van Maldergem L., Pineda M., Dorland L., Gooskens R., Jaeken J., Poll-The B. T. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids Journal of inherited metabolic disease 2002;25 (2):119-125 [PubMed]
  • van Kuilenburg A. B. P., Meinsma R., Poll-The B. T., Zoetekouw L., van Gennip A. H. Identification of a novel disease-causing mutation (100deIA) in the dihydropyrimidine dehydrogenase gene LIFEXY 2002;1:1096-1100
  • Poll-The B. T., Duran M. Inborn errors of metabolismin: Proceedings book vol 2: 12th International Congress of child health, 11th Asean pediatric federation conference 2002; June 30-July 4; Bali. S.l.: s.n.; 2002. p. 341-351
  • Duran M., Poll-The B. T., van Gennip A. H. Laboratory diagnosis of inherited metabolic diseasein: Proceedings book vol 2: 12th International Congress of child health, 11th Asean pediatric federation conference 2002; June 30-July 4; Bali. S.l.: s.n.; 2002. p. 352-360
  • Majoie Charles B., Akkerman Erik M., Blank Christian, Barth Peter G., Poll-The Bwee Tien, den Heeten G. J. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report AJNR. American journal of neuroradiology 2002;23 (5):813-816 [PubMed]
  • Spaapen L. J. M., Bakker J. A., Velter C., Loots W., Rubio-Gozalbo M. E., Forget P. P., Dorland L., de Koning T. J., Poll-The B. T., van Amstel H. K. P., Bekhof J., Blau N., Duran M. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. (vol 24, pg 352, 2001) Journal of inherited metabolic disease 2002;25 (6):514

2001

  • Rosenberg C., Wouters C. H., Szuhai K., Dorland R., Pearson P., Poll-The B. T., Colombijn R. M., Breuning M., Lindhout D. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease European journal of human genetics 2001;9 (3):171-177 [PubMed]
  • Lopriore E., Gemke R. J., Verhoeven N. M., Jakobs C., Wanders R. J., Roeleveld-Versteeg A. B., Poll-The B. T. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome European journal of pediatrics 2001;160 (2):101-104 [PubMed]
  • Frenkel J., Houten S. M., Waterham H. R., Wanders R. J., Rijkers G. T., Duran M., Kuijpers T. W., van Luijk W., Poll-The B. T., Kuis W. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D Rheumatology (Oxford, England) 2001;40 (5):579-584 [PubMed]
  • Sjarif D. R., Révész T., de Koning T. J., Duran M., Beemer F. A., Poll-The B. T. Isolated glycerol kinase deficiency and Fanconi anemia American journal of medical genetics 2001;99 (2):159-160 [PubMed]
  • Houten S. M., Koster J., Romeijn G. J., Frenkel J., Di Rocco M., Caruso U., Landrieu P., Kelley R. I., Kuis W., Poll-The B. T., Gibson K. M., Wanders R. J., Waterham H. R. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome European journal of human genetics 2001;9 (4):253-259 [PubMed]
  • Houten S. M., Koster J., Romeijn G. J., Frenkel J., Di Rocco M., Caruso U., Landrieu P., Kelley R. I., Kuis W., Poll-The B. T., Gibson K. M., Wanders R. J. A., Waterham H. R. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001) European journal of human genetics 2001;9 (8):651
  • Spaapen L. J., Bakker J. A., Velter C., Loots W., Rubio-Gozalbo M. E., Forget P. P., Dorland L., de Koning T. J., Poll-The B. T., Ploos van Amstel H. K., Bekhof J., Blau N., Duran M., Rubio-Gonzalbo M. E. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates Journal of inherited metabolic disease 2001;24 (3):352-358 [PubMed]

2000

  • de Koning T. J., Nikkels P. G., Dorland L., Bekhof J., de Schrijver J. E., van Hattum J., van Diggelen O. P., Duran M., Berger R., Poll-The B. T. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency Virchows Archiv 2000;437 (1):101-105 [PubMed]
  • de Valk H. W., de Sonneville L. M., Duran M., Poll-The B. T., Erkelens D. W. Een kinderziekte op de volwassen leeftijd: fenylketonurie Nederlands tijdschrift voor geneeskunde 2000;144 (1):11-15 [PubMed]
  • Kerckaert I., Poll-The B. T., Espeel M., Duran M., Roeleveld A. B., Wanders R. J., Roels F. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency Virchows Archiv 2000;436 (5):459-465 [PubMed]
  • Sjarif D. R., Dorland L., Sperl W., de Koning T. J., Beemer F. A., Poll-The B. T., Duran M. Hyperketonaemia in glycerol kinase deficiency Journal of inherited metabolic disease 2000;23 (7):760-764 [PubMed]
  • de Koning T. J., Jaeken J., Pineda M., van Maldergem L., Poll-The B. T., van der Knaap M. S. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency Neuropediatrics 2000;31 (6):287-292 [PubMed]
  • Drenth J. P., Waterham H. R., Kuis W., Houten S. M., Frenkel J., Wanders R. J., Poll-The B. T., van der Meer J. W. Identificatie van het gen voor het hyper-IgD-syndroom: een schoolvoorbeeld van moderne genetica Nederlands tijdschrift voor geneeskunde 2000;144 (17):782-785 [PubMed]
  • Sjarif D. R., Ploos van Amstel J. K., Duran M., Beemer F. A., Poll-The B. T. Isolated and contiguous glycerol kinase gene disorders: a review Journal of inherited metabolic disease 2000;23 (6):529-547 [PubMed]
  • Frenkel J., Houten S. M., Waterham H. R., Wanders R. J., Rijkers G. T., Kimpen J. L., Duran R., Poll-The B. T., Kuis W. Mevalonate kinase deficiency and Dutch type periodic fever Clinical and experimental rheumatology 2000;18 (4):525-532 [PubMed]
  • Poll-The B. T., Frenkel J., Houten S. M., Kuis W., Duran M., de Koning T. J., Dorland L., de Barse M. M., Romeijn G. J., Wanders R. J., Waterham H. R. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome Journal of inherited metabolic disease 2000;23 (4):363-366 [PubMed]
  • Houten S. M., Frenkel J., Kuis W., Wanders R. J., Poll-The B. T., Waterham H. R. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene Journal of inherited metabolic disease 2000;23 (4):367-370 [PubMed]
  • Klomp L. W., de Koning T. J., Malingré H. E., van Beurden E. A., Brink M., Opdam F. L., Duran M., Jaeken J., Pineda M., van Maldergem L., Poll-The B. T., van den Berg I. E., Berger R. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis American journal of human genetics 2000;67 (6):1389-1399 [PubMed]
  • Sistermans E. A., de Coo R. F., van Beerendonk H. M., Poll-The B. T., Kleijer W. J., van Oost B. A. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population European journal of human genetics 2000;8 (7):557-560 [PubMed]
  • de Koning T. J., Duran M., Dorland L., Jakobs C., Wevers R. A., Berger R., Poll-The B. T. Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency European journal of pediatrics 2000;159 (12):939-940 [PubMed]
  • Zomer A. W., Jansen G. A., van der Burg B., Verhoeven N. M., Jakobs C., van der Saag P. T., Wanders R. J., Poll-The B. T. Phytanoyl-CoA hydroxylase activity is induced by phytanic acid European Journal of Biochemistry / FEBS 2000;267 (13):4063-4067 [PubMed]
  • Marie S., Flipsen J. W., Duran M., Poll-The B. T., Beemer F. A., Bosschaart A. N., Vincent M. F., van den Berghe G. Prenatal diagnosis in adenylosuccinate lyase deficiency Prenatal diagnosis 2000;20 (1):33-36 [PubMed]
  • Zomer A. W., van der Burg B., Jansen G. A., Wanders R. J., Poll-The B. T., van der Saag P. T. Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha Journal of lipid research 2000;41 (11):1801-1807 [PubMed]

1999

  • van Royen-Kerkhof A., Poll-The B. T., Beemer F. A. Coexistence of Gaucher disease type 1 and Joubert syndrome - Reply Journal of medical genetics 1999;36 (11):871
  • de Koning T. J., Poll-The B. T., Jaeken J. Continuing education in neurometabolic disorders--serine deficiency disorders Neuropediatrics 1999;30 (1):1-4 [PubMed]
  • Knol I. E., Ausems M. G., Lindhout D., van Diggelen O. P., Verwey H., Davies J., Ploos van Amstel J. K., Poll-The B. T. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation American journal of medical genetics 1999;82 (5):436-439 [PubMed]
  • Costa C. C., de Almeida I. T., Jakobs C., Poll-The B. T., Duran M. Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children Pediatric research 1999;46 (4):440-444 [PubMed]
  • Lilien M., Duran M., van Hoeck K., Poll-The B. T., Schröder C. Hyperhomocyst(e)inaemia in children with chronic renal failure Nephrology, dialysis, transplantation 1999;14 (2):366-368 [PubMed]
  • Custers J. W., Poll-The B. T., Duran M., de Klerk J. B., Uiterwaal C. S., Helders P. J. Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 1999;22 (2):200-201 [PubMed]
  • Houten S. M., Kuis W., Duran M., de Koning T. J., van Royen-Kerkhof A., Romeijn G. J., Frenkel J., Dorland L., de Barse M. M., Huijbers W. A., Rijkers G. T., Waterham H. R., Wanders R. J., Poll-The B. T. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome Nature genetics 1999;22 (2):175-177 [PubMed]
  • de Koning T. J., de Vries L. S., Groenendaal F., Ruitenbeek W., Jansen G. H., Poll-The B. T., Barth P. G. Pontocerebellar hypoplasia associated with respiratory-chain defects Neuropediatrics 1999;30 (2):93-95 [PubMed]

1998

  • van den Bergh F. A., Bosschaart A. N., Hageman G., Duran M., Poll-The Bwee Tien Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death Neuropediatrics 1998;29 (1):51-53 [PubMed]
  • Kerckaert I., de Koning T. J., Poll-The B. T., Roels F. Alterations of hepatic peroxisomes in tyrosinaemia type I: return to fetal type? Journal of inherited metabolic disease 1998;21 (3):186-190 [PubMed]
  • Casale C. H., Casals N., Pié J., Zapater N., Pérez-Cerdá C., Merinero B., Martínez-Pardo M., García-Peñas J. J., García-Gonzalez J. M., Lama R., Poll-The B. T., Smeitink J. A., Wanders R. J., Ugarte M., Hegardt F. G. A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients Archives of biochemistry and biophysics 1998;349 (1):129-137 [PubMed]
  • de Koning T. J., Dorland L., van Diggelen O. P., Boonman A. M., de Jong G. J., van Noort W. L., de Schryver J., Duran M., van den Berg I. E., Gerwig G. J., Berger R., Poll-The B. T. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency Biochemical and biophysical research communications 1998;245 (1):38-42 [PubMed]
  • de Koning T. J., Duran M., Dorland L., Gooskens R., van Schaftingen E., Jaeken J., Blau N., Berger R., Poll-The B. T. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency Annals of neurology 1998;44 (2):261-265 [PubMed]
  • Baumgartner M. R., Poll-The B. T., Verhoeven N. M., Jakobs C., Espeel M., Roels F., Rabier D., Levade T., Rolland M. O., Martinez M., Wanders R. J., Saudubray J. M. Clinical approach to inherited peroxisomal disorders: a series of 27 patients Annals of neurology 1998;44 (5):720-730 [PubMed]
  • Sjarif D. R., Sinke R. J., Duran M., Beemer F. A., Kleijer W. J., Ploos van Amstel J. K., Poll-The B. T. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency Journal of medical genetics 1998;35 (8):650-656 [PubMed]
  • van Royen-Kerkhof A., Poll-The B. T., Kleijer W. J., van Diggelen O. P., Aerts J. M., Hopwood J. J., Beemer F. A. Coexistence of Gaucher disease type 1 and Joubert syndrome Journal of medical genetics 1998;35 (11):965-966 [PubMed]
  • Poll-The B. T., de Koning T. J., Dorland L., Duran M. Peroxisomal disorders NEUROSCIENCE RESEARCH COMMUNICATIONS 1998;22 (2):63-71
  • de Koning T. J., Toet M., Dorland L., de Vries L. S., van den Berg I. E., Duran M., Poll-The B. T. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome Journal of inherited metabolic disease 1998;21 (6):681-682 [PubMed]
  • Xie Y. G., Rochefort D., Brais B., Howard H., Han F. Y., Gou L. P., Maciel P., The B. T., Larsson C., Rouleau G. A. Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13 Genomics 1998;52 (2):201-204 [PubMed]
  • Costa C. G., Dorland L., Holwerda U., de Almeida I. T., Poll-The B. T., Jakobs C., Duran M. Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders Clinical chemistry 1998;44 (3):463-471 [PubMed]
  • Waterham H. R., Wijburg F. A., Hennekam R. C., Vreken P., Poll-The B. T., Dorland L., Duran M., Jira P. E., Smeitink J. A., Wevers R. A., Wanders R. J. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene American journal of human genetics 1998;63 (2):329-338 [PubMed]
  • Bergman A. J., van den Berg I. E., Brink W., Poll-The B. T., Ploos van Amstel J. K., Berger R. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries Human mutation 1998;12 (1):19-26 [PubMed]
  • Costa C. G., Dorland L., de Almeida I. T., Jakobs C., Duran M., Poll-The B. T. The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 1998;21 (4):391-399 [PubMed]
  • Verhoeven N. M., Wanders R. J., Poll-The B. T., Saudubray J. M., Jakobs C. The metabolism of phytanic acid and pristanic acid in man: a review Journal of inherited metabolic disease 1998;21 (7):697-728 [PubMed]
  • de Haas V., Carbasius Weber E. C., de Klerk J. B., Bakker H. D., Smit G. P., Huijbers W. A., Duran M., Poll-The B. T. The success of dietary protein restriction in alkaptonuria patients is age-dependent Journal of inherited metabolic disease 1998;21 (8):791-798 [PubMed]
  • Gibson K. M., Sweetman L., Kozich V., Pijackova A., Tscharre A., Cortez A., Eyskens F., Jakobs C., Duran M., Poll-The B. T. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) Journal of inherited metabolic disease 1998;21 (3):255-261 [PubMed]

1997

  • Mulders T. M., Bergman D. J., Poll-The B. T., Smit G. P., Breimer D. D., Mulder G. J., Duran M., Smeitink J. A. Abnormal glutathione conjugation in patients with tyrosinaemia type I Journal of inherited metabolic disease 1997;20 (4):473-485 [PubMed]
  • Ausems M. G., Bakker E., Berger R., Duran M., van Diggelen O. P., Keulemans J. L., de Valk H. W., Kneppers A. L., Dorland L., Eskes P. F., Beemer F. A., Poll-The B. T., Smeitink J. A. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family American journal of medical genetics 1997;68 (2):236-239 [PubMed]
  • Christensen E., Ribes A., Busquets C., Pineda M., Duran M., Poll-The B. T., Greenberg C. R., Leffers H., Schwartz M. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion Journal of inherited metabolic disease 1997;20 (3):383-386 [PubMed]
  • Jakobs C., Kneer J., Martin D., Boulloche J., Brivet M., Poll-The B. T., Saudubray J. M. In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique European journal of pediatrics 1997;156 (Suppl. 1):S78-S82 [PubMed]
  • Jaeken J., Artigas J., Barone R., Fiumara A., de Koning T. J., Poll-The B. T., de Rijk-van Andel J. F., Hoffmann G. F., Assmann B., Mayatepek E., Pineda M., Vilaseca M. A., Saudubray J. M., Schlüter B., Wevers R., van Schaftingen E. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins Journal of inherited metabolic disease 1997;20 (3):447-449 [PubMed]

1996

  • de Valk H. W., van Eeden M. K., Banga J. D., van der Griend R., de Groot E., Haas F. J., Meuwissen O. J., Duran M., Smeitink J. A., Poll-The B. T., de Klerk J. B., Wittebol-Post D., Rolland M. O. Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency Stroke; a journal of cerebral circulation 1996;27 (6):1134-1136 [PubMed]
  • Ploos van Amstel J. K., Bergman A. J., van Beurden E. A., Roijers J. F., Peelen T., van den Berg I. E., Poll-The B. T., Kvittingen E. A., Berger R. Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship Human genetics 1996;97 (1):51-59 [PubMed]
  • Bergman A. J., van der Knaap M. S., Smeitink J. A., Duran M., Dorland L., Valk J., Poll-The B. T. Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations Pediatric research 1996;40 (3):404-409 [PubMed]
  • de Koning T. j, Duran M., Dorland L., Berger R., Poll-The B. T. Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring Lancet 1996;348 (9031):887-888 [PubMed]
  • Costa C. G., de Almeida I. T., Jakobs C., Duran M., Poll-The B. T. Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 1996;19 (3):376-377 [PubMed]
  • Lissens W., de Meirleir L., Seneca S., Benelli C., Marsac C., Poll-The B. T., Briones P., Ruitenbeek W., van Diggelen O., Chaigne D., Ramaekers V., Liebaers I. Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency Human mutation 1996;7 (1):46-51 [PubMed]
  • Motley A. M., Tabak H. F., Smeitink J. A., Poll-The B. T., Barth P. G., Wanders R. J. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1996;1315 (3):153-158 [PubMed]
  • van der Sijs-Bos C. J., Diepstraten C. M., Juyn J. A., Plaisier M., Giltay J. C., van Spronsen F. J., Smit G. P., Berger R., Smeitink J. A., Poll-The B. T., Ploos van Amstel J. K. Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis Human heredity 1996;46 (4):185-190 [PubMed]
  • Coker M., de Klerk J. B., Poll-The B. T., Huijmans J. G., Duran M. Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism Journal of inherited metabolic disease 1996;19 (6):743-751 [PubMed]

1995

  • Poggi-Travert F., Fournier B., Poll-The B. T., Saudubray J. M. Clinical approach to inherited peroxisomal disorders Journal of inherited metabolic disease 1995;18 (Suppl. 1):1-18 [PubMed]
  • Leroy J. G., Espeel M., Gadisseux J. F., Mandel H., Martinez M., Poll-The B. T., Wanders R. J., Roels F. Diagnostic work-up of a peroxisomal patient Journal of inherited metabolic disease 1995;18 (Suppl. 1):214-222 [PubMed]
  • Espeel M., Roels F., Giros M., Mandel H., Peltier A., Poggi F., Poll-The B. T., Smeitink J. A., van Maldergem L., Santos M. J. Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders European journal of cell biology 1995;67 (4):319-327 [PubMed]
  • Fukao T., Song X. Q., Yamaguchi S., Orii T., Wanders R. J., Poll-The B. T., Hashimoto T. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency Human mutation 1995;5 (1):94-96 [PubMed]
  • Espeel M., Mandel H., Poggi F., Smeitink J. A., Wanders R. J., Kerckaert I., Schutgens R. B., Saudubray J. M., Poll-The B. T., Roels F. Peroxisome mosaicism in the livers of peroxisomal deficiency patients Hepatology (Baltimore, Md.) 1995;22 (2):497-504 [PubMed]
  • van den Berg I. E., van Beurden E. A., Malingré H. E., van Amstel H. K., Poll-The B. T., Smeitink J. A., Lamers W. H., Berger R. X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit American journal of human genetics 1995;56 (2):381-387 [PubMed]

1994

  • Fournier B., Saudubray J. M., Benichou B., Lyonnet S., Munnich A., Clevers H., Poll-The B. T. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy Journal of clinical investigation 1994;94 (2):526-531 [PubMed]
  • Fournier B., Smeitink J. A., Dorland L., Berger R., Saudubray J. M., Poll-The B. T. Peroxisomal disorders: a review Journal of inherited metabolic disease 1994;17 (4):470-486 [PubMed]
  • Bergman A. J., Donckerwolcke R. A., Duran M., Smeitink J. A., Mousson B., Vianey-Saban C., Poll-The B. T. Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency Pediatric research 1994;36 (5):582-588 [PubMed]
  • Beekman R. P., Hofstee N., Smeitink J. A., Poll-The B. T., Duran M. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency European journal of pediatrics 1994;153 (4):264-266 [PubMed]

1993

  • Duran M., Baumgartner E. R., Suormala T. M., Bruinvis L., Dorland L., Smeitink J. A., Poll-The B. T. Cerebrospinal fluid organic acids in biotinidase deficiency Journal of inherited metabolic disease 1993;16 (3):513-516 [PubMed]
  • McGuinness M. C., Moser A. B., Poll-The B. T., Watkins P. A. Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation Biochemical medicine and metabolic biology 1993;49 (2):228-242 [PubMed]
  • Espeel M., Heikoop J. C., Smeitink J. A., Beemer F. A., de Craemer D., van den Berg M., Hashimoto T., Wanders R. J., Schutgens R. B., Poll-The B. T. Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata Ultrastructural pathology 1993;17 (6):623-636 [PubMed]
  • Duran M., Dorland L., Meuleman E. E., Renardel de Lavalette P. A., Poll-The B. T., Berger R. Formiminoglutamic/hydantoinpropionic aciduria in two siblings Journal of inherited metabolic disease 1993;16 (1):155-156 [PubMed]
  • Christensen E., Woldseth B., Hagve T. A., Poll-The B. T., Wanders R. J., Sprecher H., Stokke O., Christophersen B. O. Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase Scandinavian journal of clinical and laboratory investigation 1993;53 (Suppl. 215):61-74 [PubMed]
  • ten Brink H. J., van den Heuvel C. M., Poll-The B. T., Wanders R. J., Jakobs C. Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma Journal of inherited metabolic disease 1993;16 (3):587-590 [PubMed]
  • Dorland L., Poll-The B. T., Duran M., Smeitink J. A., Berger R. Phenylpyruvate, fetal damage, and maternal phenylketonuria syndrome Lancet 1993;341 (8856):1351-1352 [PubMed]
  • Smeitink J. A., Fischer J. C., Ruitenbeek W., Duran M., Hofkamp M., Bentlage H. A., Poll-The B. T. Sudden infant death associated with defective oxidative phosphorylation Lancet 1993;341 (8860):1601 [PubMed]

1992

  • ten Brink H. J., Schor D. S., Kok R. M., Stellaard F., Kneer J., Poll-The B. T., Saudubray J. M., Jakobs C. In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata Pediatric research 1992;32 (5):566-570 [PubMed]
  • Poll-The B. T., Billette de Villemeur T., Abitbol M., Dufier J. L., Saudubray J. M. Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts European journal of pediatrics 1992;151 (1):2-11 [PubMed]
  • ten Brink H. J., Schor D. S., Kok R. M., Poll-The B. T., Wanders R. J., Jakobs C. Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders Journal of lipid research 1992;33 (10):1449-1457 [PubMed]

1991

  • Poll-The B. T., Maroteaux P., Narcy C., Quetin P., Guesnu M., Wanders R. J., Schutgens R. B., Saudubray J. M. A new type of chondrodysplasia punctata associated with peroxisomal dysfunction Journal of inherited metabolic disease 1991;14 (3):361-363 [PubMed]
  • Billette de Villemeur T., Poll The B. T., Saudubray J. M. Aspects cliniques des troubles héréditaires des péroxysomes Minerva pediatrica 1991;43 (3):115-123 [PubMed]
  • ten Brink H. J., Poll-The B. T., Saudubray J. M., Wanders R. J., Jakobs C. Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase Journal of inherited metabolic disease 1991;14 (5):681-684 [PubMed]
  • de Craemer D., Zweens M. J., Lyonnet S., Wanders R. J., Poll-The B. T., Schutgens R. B., Waelkens J. J., Saudubray J. M., Roels F. Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data Virchows Archiv. A, Pathological anatomy and histopathology 1991;419 (6):523-525 [PubMed]

1990

  • Saudubray J. M., Narcy C., Lyonnet L., Bonnefont J. P., Poll The B. T., Munnich A. Clinical approach to inherited metabolic disorders in neonates Biology of the neonate 1990;58 (Suppl. 1):44-53 [PubMed]
  • Poll-The B. T., Skjeldal O. H., Stokke O., Demaugre F., Saudubray J. M. Complementation analysis of peroxisomal disorders and classical Refsum Progress in clinical and biological research 1990;321:537-543 [PubMed]
  • Saudubray J. M., Ogier H., Bonnefont J. P., Munich A., Lombes A., Hervé F., Mitchel G., Poll The B., Specola N., Parvy B. Klinický prístup k dĕdicným poruchám metabolismu u novorozenců. Prehled 20letých zkuseností Ceskoslovenská pediatrie 1990;45 (1):1-6 [PubMed]

1989

  • Sarda H., Henry V., Le Loc'h H., Aubourg P., Poll-The B. T., Saudubray J. M. Adrénoleucodystrophie néonatale. A propos de trois cas d'une même fratrie Annales de pédiatrie 1989;36 (4):233-236 [PubMed]
  • Saudubray J. M., Ogier H., Bonnefont J. P., Munnich A., Lombes A., Hervé F., Mitchel G., Poll The B., Specola N., Parvy P. Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey Journal of inherited metabolic disease 1989;12 (Suppl. 1):25-41 [PubMed]
  • Poll-The B. T., Skjeldal O. H., Stokke O., Poulos A., Demaugre F., Saudubray J. M. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders Human genetics 1989;81 (2):175-181 [PubMed]

1988

  • Poll-The B. T., Vamecq J., Draye J. P., Saudubray J. M. A NEW GROUP OF INBORN-ERRORS OF METABOLISM - PEROXISOMAL DISEASES Medecine sciences 1988;4 (9):553-559
  • Poll-The B. T., Roels F., Ogier H., Scotto J., Vamecq J., Schutgens R. B., Wanders R. J., van Roermund C. W., van Wijland M. J., Schram A. W. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy) American journal of human genetics 1988;42 (3):422-434 [PubMed]
  • Vamecq J., Poll-The B. T., Saudubray J. M. Biochimie du peroxysome et maladies peroxysomiales Annales de biologie clinique 1988;46 (4):233-258 [PubMed]
  • Ogier H., Lombes A., Scholte H. R., Poll-The B. T., Fardeau M., Alcardi J., Vignes B., Niaudet P., Saudubray J. M. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency Journal of pediatrics 1988;112 (5):734-739 [PubMed]
  • Poll-The B. T., Bonnefont J. P., Ogier H., Charpentier C., Pelet A., Le Fur J. M., Jakobs C., Kok R. M., Duran M., Divry P. Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? Journal of inherited metabolic disease 1988;11 (Suppl. 2):183-185 [PubMed]
  • Roels F., Pauwels M., Poll-Thé B. T., Scotto J., Ogier H., Aubourg P., Saudubray J. M. Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data Virchows Archiv. A, Pathological anatomy and histopathology 1988;413 (4):275-285 [PubMed]
  • Wanders R. J., Heymans H. S., Schutgens R. B., Poll-Thé B. T., Saudubray J. M., Tager J. M., Schrakamp G., van den Bosch H. Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease Journal of the neurological sciences 1988;84 (2-3):147-155 [PubMed]

1987

  • van Eldere J. R., Parmentier G. G., Eyssen H. J., Wanders R. J., Schutgens R. B., Vamecq J., van Hoof F., Poll-The B. T., Saudubray J. M. Bile acids in peroxisomal disorders European journal of clinical investigation 1987;17 (5):386-390 [PubMed]
  • Poll-The B. T., Saudubray J. M., Ogier H. A., Odièvre M., Scotto J. M., Monnens L., Govaerts L. C., Roels F., Cornelis A., Schutgens R. B. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy European journal of pediatrics 1987;146 (5):477-483 [PubMed]
  • Wanders R. J., van Roermund C. W., van Wijland M. J., Heikoop J., Schutgens R. B., Schram A. W., Tager J. M., van den Bosch H., Poll-Thé B. T., Saudubray J. M. Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders Clinica chimica acta; international journal of clinical chemistry 1987;166 (2-3):255-263 [PubMed]
  • Poll-The B. T., Saudubray J. M., Rocchiccioli F., Scotto J., Roels F., Boue J., Ogier H., DUMEZ Y., Wanders R. J. A., Schutgens R. B. H., Schram A. W., Tager J. M. PRENATAL-DIAGNOSIS AND CONFIRMATION OF INFANTILE REFSUMS DISEASE Journal of inherited metabolic disease 1987;10 (2):229-232
  • Kok R. M., Kaster L., de Jong A. P., Poll-Thé B., Saudubray J. M., Jakobs C. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography Clinica chimica acta; international journal of clinical chemistry 1987;168 (2):143-152 [PubMed]

1986

  • Wanders R. J. A., Schutgens R. B. H., Schrakamp G., VANDENBOSCH H., Tager J. M., POLLTHE B. T., Saudubray J. M. DEFICIENCY OF DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE AND CATALASE-CONTAINING PARTICLES IN PATIENTS WITH INFANTILE REFSUMS DISEASE Journal of inherited metabolic disease 1986;9 (2):325-328
  • Wanders R. J., Saelman D., Heymans H. S., Schutgens R. B., Westerveld A., Poll-Thé B. T., Saudubray J. M., van den Bosch H., Strijland A., Schram A. W. Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata New England journal of medicine 1986;314 (12):787-788 [PubMed]
  • Roels F., Cornelis A., Poll-The B. T., Aubourg P., Ogier H., Scotto J., Saudubray J. M. Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases American journal of medical genetics 1986;25 (2):257-271 [PubMed]
  • Poll-Thé B. T., Ogier H., Saudubray J. M., Schutgens R. B., Wanders R. J., van den Bosch H., Schrakamp G. Impaired plasmalogen metabolism in infantile Refsum's disease European journal of pediatrics 1986;144 (5):513-514 [PubMed]
  • Wanders R. J., Schutgens R. B., Schrakamp G., van den Bosch H., Tager J. M., Schram A. W., Hashimoto T., Poll-Thé B. T., Saudubrau J. M. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins European journal of pediatrics 1986;145 (3):172-175 [PubMed]
  • Poll-The B. T., Saudubray J. M., Ogier H., Schutgens R. B., Wanders R. J., Schrakamp G., van den Bosch H., Trijbels J. M., Poulos A., Moser H. W. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction Journal of inherited metabolic disease 1986;9 (2):169-174 [PubMed]
  • Poulos A., van Crugten C., Sharp P., Carey W. F., Robertson E., Becroft D. M., Saudubray J. M., Poll-The B. T., Christensen E., Brandt N. Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid European journal of pediatrics 1986;145 (6):507-510 [PubMed]

1985

  • Ogier H., Roels F., Cornelis A., Poll The B. T., Scotto J. M., Odievre M., Sandubray J. M. Absence of hepatic peroxisomes in a case of infantile Refsum's disease Scandinavian journal of clinical and laboratory investigation 1985;45 (8):767-768 [PubMed]
  • Poll-The B. T., Poulos A., Sharp P., Boue J., Ogier H., Odièvre M., Saudubray J. M. Antenatal diagnosis of infantile Refsum's disease Clinical genetics 1985;27 (5):524-526 [PubMed]
  • Poll-The B. T., Aicardi J., Girot R., Rosa R. Neurological findings in triosephosphate isomerase deficiency Annals of neurology 1985;17 (5):439-443 [PubMed]
  • Poll-The B. T., Aicardi J. Pseudomonoventricle due to a malformation of the septum pellucidum Neuropediatrics 1985;16 (1):39-42 [PubMed]