Pyruvate dehydrogenase deficiency
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Care facilities 5
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Glycogen storage disease
- Disorder of fructose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Hereditary fructose intolerance
- Gluconeogenesis disorder
- Disorder of galactose metabolism
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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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Email
- Huntington disease
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Neurodegeneration with brain iron accumulation
- Rare ataxia
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München
Lindwurmstr. 4
80337 München
- Medium chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Disorder of urea cycle metabolism and ammonia detoxification
- Fabry disease
- Mitochondrial disease
- Glycogen storage disease
- Phenylketonuria
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Tyrosinemia type 1
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
070717049000
070717049002
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