Dutch Diagnosis Registration Metabolic Diseases

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Erasmus Medical Center
Center for Lysosomal and Metabolic disease
Sb-1629
Wytemaweg 80
3015 CN Rotterdam
 
phone: +31(0)10 704 48 40 (Sophia Children's Hospital)
+31(0)10 704 01 15 (Erasmus MC - adult patients)
fax:+31(0)10 703 72 78
E-mail: metaboolcentrum@erasmusmc.nl stofwisselingsziekten@erasmusmc.nl (for adult patients)
website:https://www.erasmusmc.nl/nl-nl/sophia/patientenzorg/centra/lysosomale-en-metabole-ziekten

 

Center of expertise:
  • Primary diagnostic center for Pompe disease, mucopolysaccharidosis type I, II and VI (MPS), mucolipidosis and other lysosomal storage disorders
  • Metabolic disorders in general (PKU, tyrosinemia, fatty acid metabolism disorders, urea cycle defects and organic acidurias)
  • NeMO center for mitochondrial disease and innovative therapy
  • Enzyme replacement therapy for Pompe disease, MPS and mannosidosis
  • Porfyrias (EPP and acute porphyrias)
  • Hypophosphatasia
Research:
  • Clinical follow-up of enzyme replacement therapy (national and international)
  • Innovative treatment strategies
    • Enzyme replacement therapy
    • Stem cell therapy
    • Gene therapy
  • Muscle regeneration and repair
  • Cost-effectiveness studies (collaboration with iMTA)

Medical specialists


Ans van der Ploeg Ans van der Ploeg, MD PhD
Head of center
(metabolic pediatrician)
  • Lysosomal and metabolic disorders
  • Development of innovative treatment methods for LSD’s
Monique Williams Monique Williams, MD PhD
(metabolic pediatrician)
  • Phenylketonuria / tyrosinemia
  • Fatty acid oxidation chain defects
  • Urea cycle disorders, Organic acidemia
  • Fam. Hypercholesterolemia
  • Porfyrias
  • Biotinidase deficiency/holocarboxylase deficiency
  • NKH
 
Esmee Oussoren Esmee Oussoren, MD
(metabolic pediatrician)
  • Lysosomal storage disorders and metabolic disease
  • Hypophosphatasia
  • Special interest in MPS
 Hidde Huidekoper Hidde Huidekoper, MD Phd
(metabolic pediatrician)
  • Inborn errors of glucose metabolism and fatty acid oxidation
  • Defects of bile acid synthesis and transport
  • Lysosomal storage disorders
 
Hannerieke van den Hout Hannerieke van den Hout, MD Phd
(pediatric neurologist)
  • Lysosomal storage disorders
  • Special interest M. Pompe, MPS, Mannosidosis, Mucolipidosis
  • NKH (Non Ketotic Hyperglycemia)
 Margreet Wagenmakers Margreet Wagenmakers, MD PhD
(internist-endocrinologist)
  • Lysosomal disorders including MPS and mucolipidosis
  • Porphyrias
  • Urea cycle disorders and Organic academia
  • Phenylketonuria
 
Pieter van Doorn Pieter van Doorn, MD PhD
(neurologist)
  • Pompe disease
  • Guillain Barre
  • Myopathy
Esther Brusse Esther Brusse, MD PhD
(neurologist)
  • Pompe disease
  • MPS
  • Myopathy
 
Nadine van der Beek Nadine van der Beek, MD PhD
(neurologist)
  • Pompe disease
 Janneke Langendonk Janneke Langendonk, MD PhD
(internist, specialist for adults with inherited metabolic diseases)
  • Porphyrias
  • Phenylketonuria / tyrosinemia
  • Urea cycle disorders, Organic acidemia
  • Aceruloplasminemia
 

Laboratory
George Ruijter George Ruijter, PhD
(biochemical geneticist)
  • Diagnostics lysosomal and metabolic diseases
 Frans Verheijen, PhD
(biochemical geneticist)
  • Diagnostics lysosomal and metabolic diseases
 
Pim Pijnappel Pim Pijnappel, PhD
(molecular biologist)
  • Development of innovative treatment strategies
  • Research
 Pim Onkenhout Pim Onkenhout, PhD
(biochemical geneticist)
  • Diagnostics lysosomal and metabolic diseases
 
Gerben Schaaf Gerben Schaaf, PhD
(molecular biologist)
  • Development of innovative treatment strategies
  • Research

For other members of our team, please visit www.clmz.nl.