Dutch Diagnosis Registration Metabolic Diseases

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University Medical Center of Groningen (UMCG)
Section of Metabolic Diseases
Beatrix Children’s Hospital
Hanzeplein 1
9713 GZ Groningen
 
phone:+31 (0)50 3614944 / +31 (0)50 3611036
fax:+31 (0)50 3611787
E-mail:metaboleziekten@umcg.nl
website:www.lmzg.nl

 

Center of expertise:
  • Complex dietary treatment of inborn errors of metabolism: ketogenic diet
  • Defects in Amino Acid metabolism (specifically Phenylketonuria, Tyrosinemia type I, Serine Deficiency, glutaric aciduria type I)
  • Dietary treatment for metabolic defects especially in amino acids, fat and glycogen
  • Idiopathic Ketotic Hypoglycemia
  • Liver based Glycogen Storage Diseases
  • Liver transplantation for inborn errors of metabolism
  • Neonatal screening of inborn errors of metabolism
  • Medium Chain Acyl CoA Dehydrogenase defiency
  • Medium Chain fatty acid oxidation defect
  • Molybdenum Cofactor Deficiency
  • Multiple Acyl CoA Dehydrogenase deficiency
  • Phenylketonuria and defects in phenylalanine metabolism
  • Tyrosinemia type I
Research:
  • From basic understanding to improved and innovative treatment strategies for Idiopathic Ketogenic Hypoglycemia, Phenylketonuria, Tyrosinemia type I, Glycogen Storage Disease type I and III, Multiple Acyl CoA Dehydrogenase deficiency

Medical specialists


Francjan J. van Spronsen F.J. (Francjan) van Spronsen, MD, PhD
head of metabolic Diseases for Children
(metabolic pediatrician)
f.j.van.spronsen@umcg.nl
  • Cobalamine C deficiency
  • Molybdenum Cofactor Deficiency
  • Phenylketonuria and defects in phenylalanine metabolism
  • Tyrosinemia type I
Terry G.J. Derks T.G.J. (Terry) Derks, MD, PhD
(metabolic pediatrician)
t.g.j.derks@umcg.nl
  • Idiopathic Ketotic Hypoglycemia
  • Liver based Glycogen Storage Diseases
  • Multiple Acyl CoA Dehydrogenase deficiency
  • Medium Chain Acyl CoA Dehydrogenase deficiency
 
Charlotte Lubout C.M.A. (Charlotte) Lubout, MD
(pediatrician metabolic diseases)
c.m.a.lubout@umcg.nl
  • Mocod
  • Liver Transplantation for inborn errors of metabolism
  • Phenylketonuria
Andrea Schreuder A.B. (Andrea) Schreuder, MD, PhD
(pediatrician, fellow metabolic diseases)
a.b.schreuder@umcg.nl
 
Bruce Wolffenbuttel B.H.R. (Bruce) Wolffenbuttel, MD, PhD
(internist, endocrinologist, specialist for adults with inherited metabolic diseases)
bwo@umcg.nl
Melanie van der Klauw M.M. (Melanie) van der Klauw, MD, PhD
(internist, specialist for adults with inherited metabolic diseases)
m.m.van.der.klauw@umcg.nl
 
Sonja Brunet van Ockenburg S.L. (Sonja) Brunet-van Ockenburg, MD, PhD
(fellow internal medicine - endocrinology and inherited metabolic diseases)
s.l.van.ockenburg@umcg.nl

Dieticians Metabolic Diseases


Foekje de Boer F. (Foekje) de Boer
(complex dietary treatment of inborn errors of metabolism)
f.de.boer@umcg.nl
  • Liver based Glycogen Storage Disease
  • Idiopathic Ketotic Hypoglycemia
  • Ketogenic diet
  • Multiple Acyl CoA Dehydrogenase deficiency
  • Medium Chain Acyl CoA Dehydrogenase deficiency
Marieke Fokkert-Wilts M.J. (Marieke) Fokkert-Wilts
(complex dietary treatment of inborn errors of metabolism)
m.j.fokkert@umcg.nl
  • Liver based glycogen storage-disease
  • Idiopathic Ketotic Hypoglycemia
  • Multiple Acyl CoA Dehydrogenase deficiency
  • Fatty Acid Oxidation Deficiencies
  • Medium Chain Acyl CoA Dehydrogenase deficiency
 
Esther van Dam E. (Esther) van Dam
(complex dietary treatment of inborn errors of metabolism)
e.van.dam@umcg.nl
  • Protein metabolism
  • Phenylketonuria
  • Tyrosinemia type I
Yteke Hoekstra Y. (Yteke) Hoekstra
(complex dietary treatment of inborn errors of metabolism)
y.hoekstra@umcg.nl
  • Protein metabolism
  • Phenylketonuria
  • Tyrosinemia type I
 
Iris Rodenburg I.L. (Iris) Rodenburg
(complex dietary treatment of inborn errors of metabolism)
i.l.rodenburg@umcg.nl
  • Protein metabolism
  • Phenylketonuria
  • Tyrosinemia type I
  • Ketogenic diet