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Kliniske forsøg med Hypoxanthin Guanin Phosphoribosyltransferase mangel
I alt 5 resultater
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Landspitali University HospitalMayo Clinic; National Institute of Diabetes and Digestive and Kidney Diseases...AfsluttetAdenin Phosphoribosyltransferase mangelIsland
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National Human Genome Research Institute (NHGRI)RekrutteringMetabolisk sygdom | Purin-pyrimidin metabolisme | AICDA, OMIM *605257, Immundefekt med Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A, OMIM *606224, Anæmi, hæmolytisk, på grund af UMPH1-mangel | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064, Millers syndrom... og andre forholdForenede Stater
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Mayo ClinicRekrutteringCystinuri | Hyperoxaluri | Dent sygdom | Lowes syndrom | Adenin Phosphoribosyltransferase mangelForenede Stater, Canada, Island, Israel
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RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereTilmelding efter invitationPrimær hyperoxaluri type 3 | Diabetes mellitus | Hæmofili A | Hæmofili B | Arvelig fruktoseintolerance | Cystisk fibrose | Faktor VII-mangel | Fenylketonuri | Seglcellesygdom | Dravet syndrom | Duchennes muskeldystrofi | Prader-Willi syndrom | Fragilt X syndrom | Kronisk granulomatøs sygdom | Rett syndrom | Wilsons sygdom | Niemann-Pick... og andre forholdForenede Stater
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UK Kidney AssociationRekrutteringVaskulitis | AL Amyloidose | Tuberøs sklerose | Fabrys sygdom | Cystinuri | Fokal Segmental Glomerulosklerose | IgA nefropati | Bartter syndrom | Pure Red Cell Aplasia | Membranøs nefropati | Atypisk hæmolytisk uræmisk syndrom | Autosomal dominant polycystisk nyresygdom | Cystinose | Nephronophthisis | BK nefropati | Calcip... og andre forholdDet Forenede Kongerige