Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
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Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
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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
- Neuroferritinopathy
- Mitochondrial disease
- Huntington disease
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Myasthenia gravis
- Pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration