Fatal infantile lactic acidosis with methylmalonic aciduria
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 5
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fructose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Glucose-galactose malabsorption
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 der Neurologischen Klinik, am LMU Klinikum München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
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- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Huntington disease
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Phenylketonuria
- Mitochondrial disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Tyrosinemia type 1
- Galactosemia
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
07071 7049000
07071 7049002
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