Disorder of fatty acid oxidation and ketogenesis
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 3
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
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- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Tuberous sclerosis complex
- Primary bone dysplasia
- Rare renal disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-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 der Neurologischen Klinik, am LMU Klinikum München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
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- Hereditary spastic paraplegia
- Infantile neuroaxonal dystrophy
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Myasthenia gravis
- Mitochondrial membrane protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Classic pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- COASY protein-associated neurodegeneration
- Rare ataxia