Lipoic acid biosynthesis defect
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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 Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Medium chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Fabry disease
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Tyrosinemia type 1
- Phenylketonuria
- Mitochondrial disease
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
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- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Mitochondrial disease
- Classic pantothenate kinase-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
Klinik für Kinder- und Jugendmedizin Reutlingen
Steinenbergstrasse 31
72764 Reutlingen
071 212004051
071 212004481
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