Dutch Diagnosis Registration Metabolic Diseases

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	University Medical Center Utrecht (UMCU) Genetic Metabolic Disorders Wilhelmina Children’s Hospital KE.04.133.1 Lundlaan 6 3584 EA Utrecht
phone:	+31 (0)88 7554070 / 7554001 / 7555555
E-mail:	kindermetabole@umcutrecht.nl
fax:	+31 (0)88 7555516
websites:	www.metabole-ziekten.nl www.umcutrecht.nl/subsite/Sylvia-Toth-Centrum www.vetzuuroxidatie.nl www.ddrmd.nl

Center of expertise:

Hematopoietic stem cell transplantation for metabolic disorders Fatty Acid Oxidation (FAO) and ketone utilisation disorders Tertiary diagnostic center for patients with developmental delay Vitamin B6 (pyridoxine) related disorders

NFU recognized Center of Expertise:

Fatty Acid Oxidation (FAO) and ketone utilisation disorders Mucopolysaccharidosis type 1 (MPS1) Vitamin B6 (pyridoxine) related disorders

Research:

Innovative treatment strategies (focus on advanced cellular therapies eg liver stem cell transplantation)

Medical specialists
	Peter M van Hasselt, MD PhD Head of department (metabolic pediatrician) p.vanhasselt@umcutrecht.nl Hematopoietic stem cell transplantation for metabolic disorders Neuronal Ceroid Lipofuscinoses (NCL)		Gepke Visser, MD PhD (metabolic pediatrician) gvisser4@umcutrecht.nl Long chain fatty acid oxydation disorders Tertiary diagnostic center for patients with developmental delay
	Sabine Fuchs, MD PhD (metabolic pediatrician) s.fuchs@umcutrecht.nl Liver stem cell research		Klaas Koop, MD PhD (pediatrician, fellow metabolic diseases)
Laboratory
	Nanda Verhoeven-Duif, PhD Head of Laboratory (laboratory specialist clinical genetics) n.verhoeven@umcutrecht.nl defects in amino acid and vitamin B6 metabolism functional genomics & metabolomics		Berthil Prinsen, PhD (laboratory specialist clinical genetics) b.prinsen@umcutrecht.nl amino acid metabolism quality control & ICT metabolomics
	Monique de Sain - van der Velden, PhD (laboratory specialist clinical genetics) m.g.desain@umcutrecht.nl neonatal screening metabolomics		Judith Jans, PhD (laboratory specialist clinical genetics) j.j.m.jans@umcutrecht.nl defects in amino acid and vitamin B6 metabolis functional genomics & metabolomics