Complex lethal osteochondrodysplasia
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Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Disorder of fructose metabolism
- Maple syrup urine disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fatty acid oxidation and ketone body metabolism
- Hereditary fructose intolerance
- Glycogen storage disease
- Fabry disease
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Achondroplasia
- Heart-hand syndrome
- Metachondromatosis
- Paralytic facial malformation
- Omodysplasia
- Acromelic dysplasia
- Multiple osteochondromas
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Femur-fibula-ulna complex
- Dysosteosclerosis
- Rhizomelic chondrodysplasia punctata type 1
- Hypochondroplasia
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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