Fatal infantile lactic acidosis with methylmalonic aciduria
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Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Disorder of fructose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of branched-chain amino acid metabolism
- Glycogen storage disease
- Glucose-galactose malabsorption
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
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30625 Hannover
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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Fabry disease
- Phenylketonuria
- Mitochondrial disease
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
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80336 München
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089 440057402
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- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- Huntington disease
- Hereditary spastic paraplegia
- Myasthenia gravis
- Pantothenate kinase-associated neurodegeneration
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
07071 7049000
07071 7049002
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