Kliniske forsøg med Isobutyryl-CoA dehydrogenase mangel
I alt 101 resultater
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Oregon Health and Science UniversityAfsluttetTrifunktionel proteinmangel | Carnitin Palmitoyltransferase 2 mangel | Meget langkædet Acyl-CoA-dehydrogenase-mangel | Langkædet 3-hydroxyacyl-CoA-dehydrogenase-mangel
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Rigshospitalet, DenmarkGroupe Hospitalier Pitie-SalpetriereAfsluttetEffekt af bezafibrat på muskelmetabolisme hos patienter med fedtsyreoxidationsdefekter (Bezafibrate)Carnitin Palmitoyltransferase II mangel | Meget langkædet acyl-coa-dehydrogenase-mangelDanmark
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Oregon Health and Science UniversityAfsluttetNormale frivillige | Trifunktionel proteinmangel | Meget langkædet Acyl-CoA-dehydrogenase-mangel | Langkædet 3-hydroxyacyl-CoA-dehydrogenase-mangel | Mellemkædet Acyl-CoA-dehydrogenase-mangel | Carnitin Palmitoyltransferase II-mangel, myopatiskForenede Stater
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West Kazakhstan Medical UniversityRekrutteringSelektiv screening af børn for arvelige stofskiftesygdomme ved tandem massespektrometri i KasakhstanOrnithin Transcarbamylase mangel | Biotinidase mangel | Citrullinæmi | Glutarsyreacidæmi Type II | Argininoravsyresyre | Ahornsirup urinsygdom | Primær carnitin mangel | Homocystinuri | Carnitin Palmitoyltransferase II mangel | Arginase mangel | Meget langkædet Acyl-CoA-dehydrogenase-mangel | Langkædet 3-hydroxyacyl-CoA-dehydrogenase-mangel og andre forholdKasakhstan
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Oregon Health and Science UniversityAfsluttetTrifunktionel proteinmangel | Meget langkædet acyl-coa-dehydrogenase-mangel | Langkædet 3-hydroxyacyl-CoA-dehydrogenase-mangel | Carnitin Palmitoyltransferase mangel 2Forenede Stater
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Ultragenyx Pharmaceutical IncAfsluttetCarnitin Palmitoyltransferase (CPT I eller CPT II) mangel | Meget langkædet acyl-CoA-dehydrogenase (VLCAD) mangel | Langkædet 3-hydroxy-acyl-CoA-dehydrogenase (LCHAD) mangel | Trifunktionelt protein (TFP) mangel | Carnitin-acylcarnitin Translocase (CACT) mangelForenede Stater, Det Forenede Kongerige
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Ultragenyx Pharmaceutical IncAfsluttetLangkædede fedtsyreoxidationsforstyrrelser (LC-FAOD) | Meget langkædet acyl-CoA-dehydrogenase (VLCAD) mangel | Trifunktionelt protein (TFP) mangel | Carnitin Palmitoyltransferase (CPT II) mangel | Langkædet 3-hydroxy-acyl-CoA-dehydrogenase (LCHAD) mangelForenede Stater, Det Forenede Kongerige
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University of PittsburghHorizon Pharma Ireland, Ltd., Dublin IrelandAfsluttetMellemkædet acyl-CoA dehydrogenase (MCAD) mangelForenede Stater
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Rigshospitalet, DenmarkUkendtKulhydratmetabolisme, medfødte fejl | Metabolisme, medfødte fejl | Lipidmetabolisme, medfødte fejl | Glykogenopbevaringssygdom type II | Glykogenopbevaringssygdom type V | VLCAD-mangel | Glykogenopbevaringssygdom type III | Phosphoglycerat Kinase mangel | Neutral Lipid Storage Disease | Carnitin Palmitoyl... og andre forholdDanmark
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Great Ormond Street Hospital for Children NHS Foundation...National Institute for Health Research, United Kingdom; The Freya FoundationRekrutteringPyruvat dehydrogenase kompleks mangel | Pyruvat dehydrogenase E1 alfa-mangel | Pyruvat Dehydrogenase E1-Beta mangel | Pyruvat dehydrogenase E2 mangel | Pyruvat Dehydrogenase Phosphatase mangelDet Forenede Kongerige
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Origin BiosciencesAfsluttetMolybdæn Cofactor Deficiency (MoCD) | Sjælden autosomal recessiv lidelse | Mangel på aktivitet af molybdæn-afhængige enzymer (sulfitoxidase [SOX], xanthin-dehydrogenase og aldehydoxidase)Forenede Stater
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Jerry Vockley, MD, PhDAcer Therapeutics Inc.RekrutteringMellemkædet Acyl-CoA-dehydrogenase-mangelForenede Stater
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University of CopenhagenSection of Molecular Physiology, Department of Nutrition, Exercise and... og andre samarbejdspartnereRekrutteringMellemkædet Acyl-CoA-dehydrogenase-mangelDanmark
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Jerry Vockley, MD, PhDUltragenyx Pharmaceutical IncIkke længere tilgængeligBarth syndrom | Mitokondriel trifunktionel proteinmangel | Meget langkædet acylCoA-dehydrogenase (VLCAD) mangel | Carnitin Palmitoyltransferase mangler (CPT1, CPT2) | Langkædet Hydroxyacyl-CoA-dehydrogenase-mangel | Glykogenopbevaringsforstyrrelser | Pyruvatcarboxylase-mangelsygdom | ACYL-CoA DEHYDROGENASE...Forenede Stater
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Jerry Vockley, MD, PhDUltragenyx Pharmaceutical IncRekrutteringMellemkædet Acyl-CoA-dehydrogenase-mangelForenede Stater
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University of PittsburghNational Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases...RekrutteringPyruvat Dehydrogenase Complex Deficiency DiseaseForenede Stater
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Jirair Krikor BedoyanUltragenyx Pharmaceutical IncRekrutteringPyruvat dehydrogenase kompleks mangelForenede Stater
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University of FloridaEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereAktiv, ikke rekrutterendePyruvat dehydrogenase kompleks mangelForenede Stater
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Fondazione TelethonAfsluttetPyruvat dehydrogenase kompleks mangelItalien
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Oregon Health and Science UniversityUniversity of PittsburghAfsluttetMeget langkædet acylCoA-dehydrogenase (VLCAD) mangel | Carnitin Palmitoyltransferase 2 (CPT2) mangel | Mitochondrial Trifunctional Protein (TFP) mangel | Langkædet 3 hydroxyacylCoA dehydrogenase (LCHAD) mangelForenede Stater
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Horizon Pharma USA, Inc.AfsluttetAldehyd Dehydrogenase-2 (ALDH2) mangelForenede Stater
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Oslo University HospitalAktiv, ikke rekrutterende
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Boston Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereAktiv, ikke rekrutterendeRavsyre semialdehyd dehydrogenase mangelForenede Stater, Det Forenede Kongerige, Tyskland, Spanien
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Ain Shams UniversityUkendtGlucose-6-phosphat dehydrogenase mangelEgypten
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University of Mississippi, OxfordAfsluttetMalaria | Glucose 6-fosfatdehydrogenase-mangelForenede Stater
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PATHUniversity of Oxford; Mahidol UniversityAfsluttetGlucose-6 fosfatdehydrogenase mangelThailand
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PATHEijkman Institute for Molecular BiologyAfsluttet
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Centre Hospitalier Universitaire de LiegeSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier... og andre samarbejdspartnereRekrutteringMedfødt binyrehyperplasi | Hæmofili A | Hæmofili B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystisk fibrose | Alpha 1-Antitrypsin mangel | Seglcellesygdom | Fanconi Anæmi | Kronisk granulomatøs sygdom | Wilsons sygdom | Svær medfødt neutropeni | Ornithin Transcarbamylase mangel | Mucopolysaccharidosis VI | Lysosomal... og andre forholdBelgien
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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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Calithera Biosciences, IncAfsluttetNyrecellekarcinom | Ikke småcellet lungekræft | Mesotheliom | Faste tumorer | Triple-negativ brystkræft | Fumarathydrase (FH)-mangelfulde tumorer | Succinatdehydrogenase (SDH)-deficiente gastrointestinale stromale tumorer (GIST) | Succinatdehydrogenase (SDH)-mangelfulde ikke-gastrointestinale stromale... og andre forholdForenede Stater
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National Institute of Neurological Disorders and...AfsluttetRavsyresemialdehyd | Dehydrogenase mangel | SygdommeForenede Stater
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Southern Medical University, ChinaUkendtNeonatal hyperbilirubinæmiKina
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First Affiliated Hospital, Sun Yat-Sen UniversityRekruttering
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National Institute of Neurological Disorders and...AfsluttetAnfald | Metabolisk sygdomForenede Stater
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University of California, San FranciscoAfsluttetAlkohol-relaterede lidelser | Skylning | Aldehyd Dehydrogenase mangelForenede Stater
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University of OxfordAfsluttetSund og rask | G6PD Normal | G6PD mangelfuldThailand
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University of ThessalyIkke rekrutterer endnu
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PATHFundação de Medicina Tropical Dr. Heitor Vieira DouradoAfsluttet
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Columbia UniversityNew York Blood CenterAfsluttet
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University of ThessalyAfsluttetG6PD-mangelGrækenland
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PATHFred Hutchinson Cancer CenterAfsluttetG6PD-mangelForenede Stater
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PATHAfsluttetG6PD-mangelForenede Stater
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Baebies, Inc.AfsluttetG6PD-mangel | G6PDForenede Stater
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University of Mississippi, OxfordUniversity of Colorado, DenverAfsluttet
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National Institute of Neurological Disorders and...AfsluttetRavsyre semialdehyd dehydrogenase mangel | SSADH mangelForenede Stater
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Fatma Hussein MahmoudIkke rekrutterer endnuSeglcellesygdom og G6PD-mangel
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University of ThessalyIkke rekrutterer endnuOxidativt stress | Kulhydratmetabolismeforstyrrelse | G6PD-mangel
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PATHMahidol Oxford Tropical Medicine Research UnitAfsluttet
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Malaria ConsortiumCenters for Disease Control and Prevention; World Health Organization; National... og andre samarbejdspartnereAfsluttet
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Menzies School of Health ResearchPATH; Indonesia University; Institute of Tropical Medicine, Belgium; UNITAID; Burnet Institute og andre samarbejdspartnereRekrutteringVivax malaria | G6PD-mangelIndonesien