Dutch Diagnosis Registration Metabolic Diseases

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	Radboud university medical center Radboud Center for Mitochondrial Medicine (RCMM) Amalia Children’s Hospital, section Metabolic Disorders Postbus 9101 6500 HB Nijmegen
phone:	+31 (0)24 3614430
fax:	+31 (0)24 3616428
E-mail:	mail@rcmm.info
websites:	https://www.radboudumc.nl/Zorg/Afdelingen/metaboleziekten https://www.radboudumc.nl/expertisecentra/expertisecentra-zeldzame-aandoeningen/radboud-center-for-mitochondrial-medicine

	Radboud university medical center Radboud Center for Mitochondrial Medicine (RCMM) Internal Medicine, section Metabolic Disorders Postbus 9101 6500 HB Nijmegen
phone:	+31 (0)24 3616504
fax:	+31 (0)24 3635126
E-mail:	mail@rcmm.info
websites:	https://www.radboudumc.nl/Zorg/Afdelingen/internegeneeskunde/metaboleziekten/Pages/default.aspx www.rcmm.info

 

Center of expertise:

Mitochondrial Disorders Congenital disorders of glycosylation (CDG) Cystinosis

NFU recognized Center of Expertise:

Mitochondrial Disorders Congenital disorders of glycosylation (CDG) Cystinosis Pyridoxine dependent epilepsy

Research:

Mitochondria in health and disease used for the development of new treatment modalities divided in three research themes: mitochondrial structure and function, cellular consequences of mitochondrial disorders, and clinical aspects of mitochondrial disorders.

Medical specialists
	Clara van Karnebeek, MD PhD Head of section Metabolic Disorders (pediatrician metabolic disorders)		Lonneke de Boer, MD PhD (pediatrician metabolic disorders) lonneke.deboer@radboudumc.nl
	Marion Hermans (Nurse specialist mitochondrial disorders) marion.hermans-peters@radboudumc.nl		Mirian Janssen, MD PhD (Internist metabolic disorders) mirian.janssen@radboudumc.nl
	Alexander Rennings, MD PhD (Internist metabolic disorders) alexander.rennings@radboudumc.nl		Maaike de Vries, MD (pediatrician metabolic disorders) maaike.devries@radboudumc.nl