Pyruvate dehydrogenase phosphatase deficiency
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 2
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of branched-chain amino acid metabolism
- Trouble de la gluconéogenèse
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Malabsorption du glucose-galactose
- Disorder of galactose metabolism
- Hereditary fructose intolerance
- Trouble de l'oxydation des acides gras et du métabolisme des corps cétoniques
- Trouble de la cétolyse
- Maple syrup urine disease
- Maladie de stockage du glycogène
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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- Beta-propeller protein-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Infantile neuroaxonal dystrophy
- Neurodegeneration with brain iron accumulation
- Rare ataxia