Pyruvate dehydrogenase deficiency
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Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Disorder of galactose metabolism
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Fabry disease
- Hereditary fructose intolerance
- Gluconeogenesis disorder
- Maple syrup urine disease
- Disorder of ketolysis
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen 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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- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
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
- Maple syrup urine disease
- Tyrosinemia type 1
- Phenylketonuria
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Fabry disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Glycogen storage disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
07071 7049000
07071 7049002
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