• Principal Investigator
  • Female

Dr. A.M. Bosch MD PhD

Position:
Main activities: Patient care, Research, Teaching
Specialisation:
foto A.M. Bosch is one of the AMC Principal Investigators
Focus of research:

metabolic disorders:

Phenylketonuria

Galactosemia

Brown-Vialetto Van Laere Syndrome

AMC themes: Metabolic disorders and gastrointestinal diseases
Departments: Paediatrics: Metabolic Diseases
Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ, Abeling NGGM, Bassett AS, van Amelsvoort TAMJ, van Spronsen FJ, Booij J, Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria. PSYCHOL MED 2017;ahead of print [PubMed]
Demirdas S, van Spronsen FJ, Hollak CEM, van der Lee JH, Bisschop PH, Vaz FM, ter Horst NM, Rubio-Gozalbo ME, Bosch AM, Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. ANN NUTR METAB 2017;70 (2):111-121 [PubMed]
Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Legemaat AM, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ, Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. NEUROPSYCHOLOGY 2017;31 (4):437-447 [PubMed]
Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. BEHAV GENET 2017;47 (5):486-497 [PubMed]
Kemper EA, Boelen A, Bosch AM, van Veen-Sijne M, van Rijswijk CN, Bouva MJ, Fingerhut R, Schielen PCJI, Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme. JIMD REPORTS 2017;32:1-6 [PubMed]
Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP, The galactosemia network (GalNet). J INHERIT METAB DIS 2017;40 (2):169-170 [PubMed]
Tuijnenburg P, Cuadrado E, Bosch AM, Kindermann A, Jansen MH, Alders M, van Leeuwen EMM, Kuijpers TW, Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, enteropathy, and Mild eczema Caused by a Classical FOXP3 Mutation. FRONT PEDIATR 2017;5:37 [PubMed]
van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM, Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. JIMD REPORTS 2017;35:87-96 [PubMed]
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A, Key European guidelines for the diagnosis and management of patients with phenylketonuria. LANCET DIABETES ENDO 2017;5 (9):743-756 [PubMed]
van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A, Issues with European guidelines for phenylketonuria Reply. LANCET DIABETES ENDO 2017;5 (9):683-684 [PubMed]
van Wegberg AMJ, Macdonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ, The complete European guidelines on phenylketonuria: diagnosis and treatment. ORPHANET J RARE DIS 2017;12 (1):162 [PubMed]
Welling L. Classical galactosemia: A cloud with a silver lining. S.l.: s.n.; 2017. 218p. ISBN 978-94-629-5699-5 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wijburg FA, Hollak CEM; copromotor(s): Bosch AM)
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, van Calcar SC, Waisbren SE, Bosch AM, International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J INHERIT METAB DIS 2017;40 (2):171-176 [PubMed]
Welling L, Boelen A, Derks TGJ, Schielen PCJI, de Vries M, Williams M, Wijburg FA, Bosch AM, Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. MOL GENET METAB 2017;120 (3):223-228 [PubMed]
Welling L, Waisbren SE, Antshel KM, Colhoun HO, Gautschi M, Grünewald S, Holman R, van der Lee JH, Treacy EP, Bosch AM, Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. JIMD REPORTS 2017;ahead of print [PubMed]
Anjema K, Hofstede FC, Bosch AM, Rubio-Gozalbo ME, de Vries MC, Boelen CCA, van Rijn M, van Spronsen FJ, The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?. ORPHANET J RARE DIS 2016;11 (1):10 [PubMed]
Hollak CEM, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R, Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. ORPHANET J RARE DIS 2016;11 (1):7 [PubMed]
Huidekoper HH, Vaz FM, Verrips A, Bosch AM, Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. EUR J PEDIATR 2016;175 (1):143-146 [PubMed]
Jaeger B, Bosch AM, Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J INHERIT METAB DIS 2016;39 (4):559-564 [PubMed]
Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. J INHERIT METAB DIS 2016;39 (3):355-362 [PubMed]
Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Koledova E, Benmedjahed K, Regnault A, Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. ORPHANET J RARE DIS 2015;10 (1):80 [PubMed]
Demirdas S. Phenylketonuria: Optimizing care. S.l.: s.n.; 2015. 227p. ISBN 978-94-6108-995-3 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wijburg FA; copromotor(s): Bosch AM)
Demirdas S, Coakley KE, Bisschop PH, Hollak CEM, Bosch AM, Singh RH, Bone health in phenylketonuria: a systematic review and meta-analysis. ORPHANET J RARE DIS 2015;10 (1):17 [PubMed]
Liemburg GB, Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?. MOL GENET METAB 2015;114 (3):425-430 [PubMed]
Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K, Bosch AM, Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires. ORPHANET J RARE DIS 2015;10 (1):59 [PubMed]
de Roo MGA, Abeling NGGM, Majoie CB, Bosch AM, Koelman JHTM, Cobben JM, Duran M, Poll-The BT, Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. MOL GENET METAB 2014;111 (3):404-407 [PubMed]
Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MAJ, de Koning TJ, Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. ORPHANET J RARE DIS 2014;9 (1):177 [PubMed]
Anjema K, van Rijn M, Hofstede FC, Bosch AM, Hollak CEM, Rubio-Gozalbo E, de Vries MC, Janssen MCH, Boelen CCA, Burgerhof JGM, Blau N, Heiner-Fokkema MR, van Spronsen FJ, Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. ORPHANET J RARE DIS 2013;8 (1):103 [PubMed]
Demirdas S, Maurice-Stam H, Boelen CCA, Hofstede FC, Janssen MCH, Langendonk JG, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, de Vries M, Grootenhuis MA, Bosch AM, Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study. MOL GENET METAB 2013;110 (Suppl):S49-S56 [PubMed]
Demirdas S, van Kessel IN, Korndewal MJ, Hollak CEM, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM [Contributors: Asselbergs FW, Blank C, Derks TGJ, Diekman EF, Dijsselhof ME, Engelen M, van Hasselt PM, ter Horst NM, van den Hurk DAM, Janssen MCH, Karstens FPJ, van der Louw E, Morava E, Nicolai J, van de Pol L, Poll-The BT, Rubio-Gozalbo E, Smit GPA, de Ruijter J, Timmer C, Touw CML, Visser G, de Valk HW, Wijburg FA, Williams M]] , Clinical pathways for inborn errors of metabolism: warranted and feasible. ORPHANET J RARE DIS 2013;8 (1):37 [PubMed]
Eijgelshoven I, Demirdas S, Smith TA, van Loon JMT, Latour S, Bosch AM, The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands. MOL GENET METAB 2013;109 (3):237-242 [PubMed]
Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ, Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study. MOL GENET METAB 2013;110 (Suppl):S57-S61 [PubMed]
Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CAP, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N, Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. PEDIATRICS 2013;131 (6):e1881-e1888 [PubMed]
van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME, Fertility preservation in female classic galactosemia patients. ORPHANET J RARE DIS 2013;8:107 [PubMed]
Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJC, Dezsofi A, Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. MOL GENET METAB 2012;106 (4):439-441 [PubMed]
Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJA, The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. ORPHANET J RARE DIS 2012;7 (1):83 [PubMed]
Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico MLC, Estrada SC, Henderson H, Leslie N, Longo N, Morris AAM, Ramirez-Farias C, Schweitzer-Krantz S, Scheweitzer-Krantz S, Silao CLT, Vela-Amieva M, Waisbren S, Fridovich-Keil JL, Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J INHERIT METAB DIS 2012;35 (6):1037-1049 [PubMed]
Macdonald A, van Rijn M, Feillet F, Lund AM, Bernstein L, Bosch AM, Gizewska M, van Spronsen FJ, Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets. ANN NUTR METAB 2012;61 (4):289-295 [PubMed]
Peuscher R, Dijsselhof ME, Abeling NG, van Rijn M, van Spronsen FJ, Bosch AM, The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. JIMD REPORTS 2012;5:127-130 [PubMed]
ten Hoedt AE. Phenylketonuria: impact and implications. s.l.: s.n.; 2012. 136p. ISBN 9789064645402 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wijburg FA; copromotor(s): Bosch AM, de Sonneville LMJ)
Touw CML, Smit GPA, de Vries M, de Klerk JBC, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJA, Waterham HR, Reijngoud DJ, Derks TGJ, Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. ORPHANET J RARE DIS 2012;7 (1):30 [PubMed]
Anjema K, Venema G, Hofstede FC, Carbasius Weber EC, Bosch AM, ter Horst NM, Hollak CEM, Jonkers CF, Rubio-Gozalbo ME, van der Ploeg EMC, de Vries MC, Janssen-Regelink RG, Janssen MCH, Zweers-van Essen H, Boelen CCA, van der Herberg-van de Wetering NAP, Heiner-Fokkema MR, van Rijn M, van Spronsen FJ, The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration. MOL GENET METAB 2011;104 (Suppl):S60-S63 [PubMed]
Bosch AM, Classic galactosemia: dietary dilemmas. J INHERIT METAB DIS 2011;34 (2):257-260 [PubMed]
Bosch AM, Abeling NGGM, Ijlst L, Knoester H, van der Pol WL, Stroomer AEM, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR, Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J INHERIT METAB DIS 2011;34 (1):159-164 [PubMed]
Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME, Grootenhuis MA, Psychosocial developmental milestones in men with classic galactosemia. J INHERIT METAB DIS 2011;34 (2):415-419 [PubMed]
ten Hoedt AE, de Sonneville LMJ, Francois B, ter Horst NM, Janssen MCH, Rubio-Gozalbo ME, Wijburg FA, Hollak CEM, Bosch AM, High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J INHERIT METAB DIS 2011;34 (1):165-171 [PubMed]
ten Hoedt AE, Hollak CEM, Boelen CCA, van der Herberg-van de Wetering NAP, ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM, "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial. ORPHANET J RARE DIS 2011;6 (1):48 [PubMed]
ten Hoedt AE, Maurice-Stam H, Boelen CCA, Rubio-Gozalbo ME, van Spronsen FJ, Wijburg FA, Bosch AM, Grootenhuis MA, Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J INHERIT METAB DIS 2011;34 (2):391-398 [PubMed]
van Spronsen FJ, Huijbregts SCJ, Bosch AM, Leuzzi V, Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development. MOL GENET METAB 2011;104 (Suppl):S45-S51 [PubMed]
Gentile JK, ten Hoedt AE, Bosch AM, Psychosocial aspects of PKU: hidden disabilities - a review. MOL GENET METAB 2010;99 (Suppl. 1):S64-S67 [PubMed]
Bosch AM, Maurice-Stam H, Wijburg FA, Grootenhuis MA, Remarkable differences: the course of life of young adults with galactosaemia and PKU. J INHERIT METAB DIS 2009;32 (6):706-712 [PubMed]
Hatzmann J , Valstar MJ, Bosch AM, Wijburg FA, Heymans HSA, Grootenhuis MA, Predicting health-related quality of life of parents of children with inherited metabolic diseases. ACTA PAEDIATR 2009;98 (7):1205-1210 [PubMed]
Schadewaldt P, Hammen HW, Kamalanathan L, Wendel U, Schwarz M, Bosch AM, Guion N, Janssen M, Boers GHJ, Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia - and review of the literature. EUR J PEDIATR 2009;168 (6):721-729 [PubMed]
van Spronsen FJ, van Rijn M, Dorgelo B, Hoeksma M, Bosch AM, Mulder MF, de Klerk JBC, de Koning T, Rubio-Gozalbo ME, de Vries M, Verkerk PH, In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31). J INHERIT METAB DIS 2009;32 (4):585-586
van Spronsen FJ, van Rijn M, Dorgelo B, Hoeksma M, Bosch AM, Mulder MF, de Klerk JBC, de Koning T, Rubio-Gozalbo ME, de Vries M, Verkerk PH, Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J INHERIT METAB DIS 2009;32 (1):27-31 [PubMed]
Bosch AM, van Spronsen FJ, Neonatale screening op stofwisselingsziekten: noodzaak van effectiviteitsonderzoek. NED TIJDSCHR GENEESKD 2008;152 (43):2366-7; author reply 2367 [PubMed]
van Kuilenburg ABP, Stroomer AEM, Bosch AM, Duran M, Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency. NUCLEOS NUCLEOT NUCL 2008;27 (6):825-829 [PubMed]
Wijburg MT, Maillette de Buy Wenniger-Prick LJ, Bosch AM, Visser G, Bams-Mengerink A, Bilateraal cataract op de kinderleeftijd: altijd een indicatie voor aanvullend onderzoek naar stofwisselingsziekten. NED TIJDSCHR GENEESKD 2008;152 (11):632-636 [PubMed]
Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA, The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J INHERIT METAB DIS 2007;30 (1):29-34 [PubMed]
Knauff EAH, Richardus R, Eijkemans MJ, Broekmans FJ, de Jong FJ, Fauser BCJM, Bosch AM, Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. REPROD SCI 2007;14 (8):780-785 [PubMed]
ten Hoedt AE, van Kempen AA, Boelen A, Duran M, Kemper-Proper EA, Oey-Spauwen MJW, Wijburg FA, Bosch AM, High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme. J INHERIT METAB DIS 2007;30 (6):978 [PubMed]
van Kuilenburg ABP, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NGGM, van Tinteren HLG, Bosch AM, Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. MOL GENET METAB 2007;91 (2):157-164 [PubMed]
Bosch AM, Classical galactosaemia revisited. J INHERIT METAB DIS 2006;29 (4):516-525 [PubMed]
Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJA, Waterham HR, Identification of novel mutations in classical galactosemia. HUM MUTAT 2005;25 (5):502 [PubMed]
Hoeksma M, van Rijn M, Verkerk PH, Bosch AM, Mulder MF, de Klerk JBC, de Koning TJ, Rubio-Gozalbo E, de Vries M, Sauer PJJ, van Spronsen FJ, The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J INHERIT METAB DIS 2005;28 (6):845-854 [PubMed]
Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA, Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia. MOL GENET METAB 2005;84 (3):265-272 [PubMed]
Bosch AM. Classical galactosemia revisited. S.l.: s.n.; 2004. 151p. ISBN 90-9018723-5 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Heymans HSA, Wanders RJA; copromotor(s): Bakker HD, Wijburg FA)
Bosch AM, Bakker HD, Wenniger-Prick LJMdB, Wanders RJA, Wijburg FA, High tolerance for oral galactose in classical galactosaemia: dietary implications. ARCH DIS CHILD 2004;89 (11):1034-1036 [PubMed]
Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HSA, Wijburg FA, Last BF, Living with classical galactosemia: health-related quality of life consequences. PEDIATRICS 2004;113 (5):E423-E428 [PubMed]
Bosch AM, Waterham HR, Bakker HD, Van gen naar ziekte; galactosemie en galactose-I-fosfaaturidyltransferasedeficiëntie. NED TIJDSCHR GENEESKD 2004;148 (2):80-81 [PubMed]
Bosch AM, de Klerk JBC, Poll-The BT, van Spronsen FJ, Wanders RJA, Bakker HD, Galactosemie in Nederland, opnieuw beschouwd. TIJDSCHR KINDERGENEESKD 2003;71 (2):49
Bosch AM, Waterham HR, Duran M, Bakker HD, Een premature tweeling met icterus, stollingsstoornissen en een E. coli-sepsis. NED TIJDSCHR KLIN CHEM LABORATORIUMGENEESKD 2003;28:341-343
Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJA, Wijburg FA, Clinical features of galactokinase deficiency: a review of the literature. J INHERIT METAB DIS 2002;25 (8):629-634 [PubMed]
Bosch AM, Hack WW, Ekkelkamp S, Congenital hemangiopericytoma: two case reports. PEDIATR SURG INT 1998;13 (2-3):211-212 [PubMed]
Bosch AM, Hack WW, Schrander-Stumpel CT, Congenital camptodactyly associated with the 48,XXYY syndrome. GENET COUNSEL 1998;9 (1):19-21 [PubMed]
Bosch AM, Sillevis Smitt JH , van Gennip AH, Abeling NG, Schutgens RB, Bakker HD, Wijburg FA, Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome. BRIT J DERMATOL 1998;139 (3):488-491 [PubMed]
Key publications

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, van Calcar SC, Waisbren SE, Bosch AM, International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J INHERIT METAB DIS 2017;40 (2):171-176 [PubMed]
Welling L, Boelen A, Derks TGJ, Schielen PCJI, de Vries M, Williams M, Wijburg FA, Bosch AM, Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. MOL GENET METAB 2017;120 (3):223-228 [PubMed]
Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Koledova E, Benmedjahed K, Regnault A, Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. ORPHANET J RARE DIS 2015;10 (1):80 [PubMed]
Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJA, The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. ORPHANET J RARE DIS 2012;7 (1):83 [PubMed]
ten Hoedt AE, Hollak CEM, Boelen CCA, van der Herberg-van de Wetering NAP, ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM, "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial. ORPHANET J RARE DIS 2011;6 (1):48 [PubMed]


All Publications

Research programmes

Metabolic Diseases

Faculty
Dr. A.M. Bosch MD PhD

PhD Students
M.M. Karssies
Drs. K. Stroek MSc
Drs. C.E. Lubout (Rijksuniversiteit Groningen)

Prof. dr. F.A. Wijburg (Inborn errors of metabolism in pediatrics: clinical, pathophysiological and therapeutic studies)

Other research related activities
Current research funding
  • Quintiles
  • Stichting AMC Foundation (Vrijgesteld)
  • Stichting Metakids
  • Swedish Orphan Biovitrum AB (publ)
  • The Galactosemia Foundation
  • Verzameldebiteur stortingen