Fatal infantile lactic acidosis with methylmalonic aciduria
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Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Disorder of fructose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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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- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Mitochondrial membrane protein-associated neurodegeneration
- Mitochondrial disease
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Neurodegeneration with brain iron accumulation
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
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Phenylketonuria
- Fabry disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Galactosemia
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Glutaryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
070717049000
070717049002
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