Kliniske forsøg med Laktatdehydrogenase mangel
I alt 9157 resultater
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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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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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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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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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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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Horizon Pharma USA, Inc.AfsluttetAldehyd Dehydrogenase-2 (ALDH2) mangelForenede Stater
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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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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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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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Imperial College LondonRekrutteringDyrke motion | LaktatDet Forenede Kongerige
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Hualien Tzu Chi General HospitalAfsluttetKardiopulmonal bypass | Laktat
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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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National Medical College BirgunjRekruttering
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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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Ain Shams UniversityUkendtGlucose-6-phosphat dehydrogenase mangelEgypten
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PATHEijkman Institute for Molecular BiologyAfsluttet
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PATHUniversity of Oxford; Mahidol UniversityAfsluttetGlucose-6 fosfatdehydrogenase mangelThailand
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University of Mississippi, OxfordAfsluttetMalaria | Glucose 6-fosfatdehydrogenase-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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HutchmedAktiv, ikke rekrutterendeIsocitrat dehydrogenase genmutationForenede Stater, Spanien
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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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Fundació EurecatUniversity Rovira i VirgiliIkke rekrutterer endnuLaktat | Metabolomics | Proteomik | SportspræstationSpanien
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Ataturk UniversityAfsluttetSygdommens sværhedsgrad | Behcets sygdom | Albumin | Lactat dehydrogenaseKalkun
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National Institute of Neurological Disorders and...AfsluttetRavsyresemialdehyd | Dehydrogenase mangel | SygdommeForenede Stater
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Sarah SaxenaCHU de CharleroiAfsluttetBlodstigning i laktat | ThiaminmangelBelgien
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National Institute of Neurological Disorders and...Afsluttet
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Southern Medical University, ChinaUkendtNeonatal hyperbilirubinæmiKina
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National Institute of Neurological Disorders and...AfsluttetAnfald | Metabolisk sygdomForenede Stater
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First Affiliated Hospital, Sun Yat-Sen UniversityRekruttering
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Hôpital Necker-Enfants MaladesUniversity Hospital, Grenoble; University Hospital, Toulouse; University... og andre samarbejdspartnereUkendtSepsis | Blodstigning i laktatFrankrig
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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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University of AarhusAfsluttetSund og rask | Hyperlaktæmi | LaktatDanmark
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University Hospital, AntwerpUniversiteit AntwerpenAktiv, ikke rekrutterende
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University College DublinUkendtBlodstigning i laktat | Trænings-induceret mælkesyreacidæmi
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University of California, San FranciscoAfsluttetAlkohol-relaterede lidelser | Skylning | Aldehyd Dehydrogenase mangelForenede Stater
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Damascus UniversityAfsluttetSkelet Maxillary Transversal DeficiencySyrien Arabiske Republik
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The Second Hospital of Hebei Medical UniversityUkendt
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Lindenwood UniversityIncrenovo, LLCAfsluttetBlodstigning i laktat | Udmattelse - FysiologiskForenede Stater
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Jerry Vockley, MD, PhDAcer Therapeutics Inc.RekrutteringMellemkædet Acyl-CoA-dehydrogenase-mangelForenede Stater
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Trakya UniversityAfsluttetHjerne svulst | Post-Op komplikation | LaktatKalkun
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Peking Union Medical College HospitalAfsluttetPostoperative komplikationer | Væskeoverbelastning | Blodstigning i laktatKina
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University of CopenhagenHvidovre University HospitalRekrutteringMetabolisme | Hypoperfusion | Metabolisk acidose | Laktat | MetabolomicsDanmark