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)
Mathildenstraße 1
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Hereditary fructose intolerance
- Glycogen storage disease
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
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
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Fabry disease
- Galactosemia
- Maple syrup urine disease
- Phenylketonuria
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- 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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- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
Klinik für Kinder- und Jugendmedizin Reutlingen
Steinenbergstrasse 31
72764 Reutlingen
071 212004051
071 212004481
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