Dutch Diagnosis Registration Metabolic Diseases

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Amsterdam University Medical Center
Genetic Metabolic Disorders
Emma Children’s Hospital
H7-270 & F5-169
Meibergdreef 9
1105 AZ Amsterdam
 
phone:+31 (0)20 5668890
fax:+31(0)20 5669683
E-mail:metaboleziekten@amc.nl
website:www.amsterdamumc.nl
Amsterdam University Medical Center
Genetic Metabolic Disorders
Department of Internal Medecine
F5-169
Meibergdreef 9
1105 AZ Amsterdam
 
phone:+31 (0)20 5666071
fax:+31(0)20 6917682
E-mail:sphinx@amc.uva.nl
website:www.amc.nl/sphinx

 

Center of expertise:
  • Lysosomal storage disorders with a focus on:
    • Mucopolysacchairdosis type I (MPS I, Hurler, Hurler-Scheie and Scheie)
    • Mucopolysacchairdosis type III (Sanfilippo syndrome)
    • Mucopolysacchairdosis type IV (Morquio syndrome)
    • Gaucher disease
    • Fabry disease
    • Niemann Pick types A, B and C
    • LAL deficiency
    • Metachromatic leukodystrophy (MLD)
  • Galactosemia
  • Phenylketonuria (PKU)
  • Peroxisomal disorders (in collaboration with the department of Pediatric Neurology)
  • Dyslipidemias, with focus on Lipoprotein Lipase (LPL) Deficiency and Familial Hypercholesterolemia (FH)
NFU recognized Center of Expertise:
  • Metabolic and lysosomal storage disorders
    • Galactosemia
    • Phenylketonuria (PKU)
    • Fabry disease
    • Gaucher disease
    • Niemann Pick types A, B and C
    • Mucopolysacchairdosis type I, III and IV
Research:
  • Improving quality of care for patients by studies on diagnosis and pathophysiology, natural history and epidemiology, and optimization of treatments.

Medical specialists
Annet Bosch Annet Bosch, MD PhD
Head of department
(metabolic pediatrician)
a.m.bosch@amc.uva.nl
  • Galactosemia
  • Phenylketonuria
  • Familiaire hypercholesterolemie
 Frits Wijburg Frits Wijburg, MD PhD
(metabolic pediatrician)
f.a.wijburg@amc.uva.nl
  • Lysosomal storage disorders
Bert Wiegman Bert Wiegman, MD PhD
(pediatrician)
a.wiegman@amc.uva.nl
  • Pediatric dyslipidemias (FH)
  • LAL deficiency
 Carla Hollak Carla Hollak, MD PhD
Head of department
(internist metabolic diseases)
c.e.hollak@amc.uva.nl
  • Lysosomal storage disorders
Mirjam Langeveld Mirjam Langeveld, MD PhD
(internist, endocrinologist, specialist for adults
with inherited metabolic diseases)
  • Lysosomal and metabolic disorders
  • MPS and mucolipidosis
  • Porphyrias