Hereditary folate malabsorption
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Zentrum für Pädiatrische Stammzelltransplantation und Immunologie der Universitätsmedizin Frankfurt
Universitätsmedizin Frankfurt Frankfurter Referenzzentrum für Seltene Erkrankungen (FRZSE)
Theodor-Stern-Kai 7
60590 Frankfurt am Main
069 63016063
069 63014202
Website
069 63016063
069 63014202
Website
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Hereditary fructose intolerance
- Fabry disease
- Disorder of fructose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of ketolysis
- Maple syrup urine disease
- Glycogen storage disease
- Gluconeogenesis disorder
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Disorder of galactose metabolism
Zentrum für Seltene Störungen der Hämatopoese und Immundefekte (ZSHI) am Universitätsklinikum Ulm
Universitätsklinikum Ulm Zentrum für Seltene Erkrankungen Universitätsmedizin Ulm
Eythstrasse 24
89075 Ulm
- Immunodeficiency predominantly affecting antibody production
- Autoimmune thrombocytopenia
- Beta-thalassemia
- Polycythemia
- Rare anemia
- Syndrome with combined immunodeficiency
- Sickle cell anemia
- Immune dysregulation disease with immunodeficiency
- Autoinflammatory syndrome of childhood
- Quantitative and/or qualitative congenital phagocyte defect
- Primary immunodeficiency due to a defect in innate immunity
- Paroxysmal nocturnal hemoglobinuria
- Hereditary spherocytosis
- Alpha-thalassemia
- Severe combined immunodeficiency