Pyruvate dehydrogenase deficiency
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Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of fructose metabolism
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Gluconeogenesis disorder
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Medium chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Fabry disease
- Maple syrup urine disease
- Phenylketonuria
- Tyrosinemia type 1
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
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- Beta-propeller protein-associated neurodegeneration
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Hereditary spastic paraplegia
- Leukodystrophy
- Infantile neuroaxonal dystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
070717049000
070717049002
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