Prof. B.T. Poll-The PhD


Prof. B.T. Poll-The PhD

Full Professor
Main activities
Patient care
Pediatric Neurology
Focus of research
  • Genetic and congenital disorders of the nervous system.
  • Neurometabolic, peroxisomal disorders.
Key publications
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
All Publications
Curriculum Vitae

Medical course.

1978 - 1982   Pediatrics Residency, Free University Hospital of Amsterdam
1983 - 1985   Clinical Fellow, Pediatric Neurology (Dr. J. Aicardi), Hôpital Necker-Enfants Malades, Paris, France.
1985 - 1990   Clinical and Research Fellow, Genetic Metabolic Disorders (Prof. Dr. J.M. Saudubray), Hôpital Necker-Enfants Malades, Paris, France.
1990 - 2000   Professor in clinical metabolic disorders, University Medical Center Utrecht, Department of Pediatrics, ‘Wilhelmina Children’s Hospital’, Utrecht, The Netherlands.
2000 – now   Professor in Pediatric Neurology and Metabolism, University of Amsterdam, Department of Neurology and Pediatrics, Emma Children’s Hospital, Academic Medical Center, Amsterdam The Netherlands


1989    Evian Research Award for research in Peroxisomal Disorders
1992    John Stobo Prichard Award of the International Child Neurology Association for research in Peroxisomal Disorders in Neuropediatrics.2
2015    The Komrower lecture for a major contribution to Inborn Errors of Metabolism,SSIEM Annual Symposium,Lyon,France

Scientific course

1986-1987  Laboratory of biochemistry (Prof. Dr. J.P. Leroux) University Paris V, France.
                        -  14CO2 measurements from exogenous [1-14C] phytanic acid in fibroblasts.
                        -  Complementations analysis between cell-lines from classical Refsum’s disease and other peroxisomal disorders.
1987-1990  Research Laboratory of Clinical Genetics (Prof. Dr. A. Munich), Hôpital Necker-Enfants Malades, Paris, France.
                        -  Molecular cloning of peroxisomal human acyl-CoA oxidase gene.
                        -  Molecular analysis of peroxisomal disorders.
1988            Ph.D. thesis Genetic peroxisomal disorders, University of Amsterdam, The Netherlands
1989            Nomination ‘Chargée de recherches’ first class at the ‘Centre National de Recherches Scientifiques’ (CNRS) de la France (first classification out of 70 candidates)
1991-2000  University Medical Center Utrecht, Utrecht, The Netherlands.
                        -  Molecular characterization of human peroxisomal acyl-CoA  oxidase deficiency. 
                        -  Genotype/phenotype correlation in Tyrosinemia type I.
                        -  Characterization of disorders with serine and/or glycine deficiency.
                        -  Clinical and biochemical investigations in hyperimmunoglobulinemia D and periodic fever syndrome.
                        -  Clinical, biochemical and molecular investigations in glycerol kinase deficiency.
                        -  Contribution of dietary lipids as transcriptional signals to disease manifestations.
2000 -          University of Amsterdam, Amsterdam, The Netherlands
                        -  Neurometabolic disorders, peroxisomal disorders.

                       -  Generation and characterization of the Phyh-/- mouse
                        -  Congenital malformations of the cerebral posterior fossa structures

                       -  Directs multidisciplinary groups :

                          1.Dutch Center for Peroxisomal Disorders.

                          2. Expert Center for Non-Syndromic Pontocerebellar Hypoplasia.



Research programmes

Prof. B.T. Poll-The PhD (Genetic and congenital disorders of the nervous system and neurometabolic diseases)

The AMC Department of Pediatrics / Pediatric Neurology and the collaborating laboratories (Genetic Metabolic Diseases, Neurogenetics) have specialized expertise in the care, diagnosis and research of patients with peroxisomal disorders and patients with congenital abnormalities of the cerebral posterior fossa structures [ponto cerebellar hypoplasia (PCH)], an early onset neurodegenerative disease.
As a result of the longstanding research lines, we see virtually all patients diagnosed in the Netherlands and we have DNA and cell lines from these patients and from patients outside the Netherlands. In addition, we have close links with the patient organizations.


Peroxisomal research line: Much progress has been made with respect to the resolution of the underlying defect in patients affected by a peroxisomal disorder. However, currently, the patho-physiological mechanisms are still poorly understood, and therefore therapeutic strategies not available. We will continue to search ways to translate discoveries made in research laboratories into a clinically relevant format in a way to ameliorate the recognition, understanding, and possible therapeutic strategies for patients.


Ponto cerebellar hypoplasia research line: After the identification of the genes (TSEN genes) as cause for PCH (2008) phenotype-genotype correlations studies have been performed. The research will now be directed to resolve the pathogenetic mechanisms which lead to neurodegeneration and to find other genes.

M. Engelen PhD (Translational studies in (peroxisomal) leukodystrophies)

Current research funding
  • Stichting AMC Foundation (Vrijgesteld)