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Kliniske forsøg med Holocarboxylase-syntetase-mangel
I alt 9053 resultater
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University Hospital, Strasbourg, FranceUkendt
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Central Hospital, Nancy, FranceUniversity Hospital, Strasbourg, France; CHU de Reims; Centre Hospitalier... og andre samarbejdspartnereRekruttering
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Polaris GroupAfsluttetArgininosuccinatsyntetasemangelForenede Stater
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Damascus UniversityAfsluttetSkelet Maxillary Transversal DeficiencySyrien Arabiske Republik
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Cabaletta BioRekrutteringIdiopatisk inflammatorisk myopati | Dermatomyositis | Immun-medieret nekrotiserende myopati | Anti-syntetase syndromForenede Stater
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Cairo UniversityIkke rekrutterer endnuSocket Preservation, Alveolar Ridge Deficiency, Alveolar Ridge Preservation
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The First Hospital of Jilin UniversityNational Natural Science Foundation of ChinaUkendtGenetiske sygdomme, medfødte | Asparaginsyntetase mangelKina
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GCS Ramsay Santé pour l'Enseignement et la RechercheRekrutteringACL - Anterior Cruciate Ligament DeficiencyFrankrig
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Baylor College of MedicineChildren's National Research InstituteRekrutteringOrnithin Transcarbamylase mangel | Urea cyklus lidelse | Carbamylphosphatsyntetasemangel | Argininoravsyresyre | Hyperargininæmi | Citrullinæmi 1 | ARGI mangel | ASL mangel | ASS mangel | NAGS-mangelForenede Stater
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The Hospital for Sick ChildrenBristol-Myers SquibbAfsluttetRefraktære eller tilbagevendende hypermuterede maligniteter | Biallelic Mismatch Repair Deficiency (bMMRD) Positive patienterForenede Stater, Frankrig, Canada, Australien, Israel
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Cytonet GmbH & Co. KGAfsluttetOrnithin Transcarbamylase mangel | Urea cyklus lidelser | Citrullinæmi | Carbamoylphosphatsyntetase I mangelTyskland
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GCS Ramsay Santé pour l'Enseignement et la RechercheRekrutteringACL - Anterior Cruciate Ligament DeficiencyFrankrig
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National Institute of Environmental Health Sciences...RekrutteringMyositis | Dermatomyositis | Polymyositis | Juvenil Dermatomyositis | Juvenil polymyositisForenede Stater
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Population Health Research InstituteCanadian Institutes of Health Research (CIHR)RekrutteringCalcium Release Deficiency Syndrome (CRDS)Forenede Stater, Israel, Canada, Belgien, Danmark, Frankrig, Det 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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DDC Clinic - Center for Special Needs ChildrenUkendtGM3 syntase mangel
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OrthoCarolina Research Institute, Inc.Tilmelding efter invitationACL skade | ACL-rivning | ACL - Anterior Cruciate Ligament DeficiencyForenede Stater
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University Hospital, CaenInstitut National de la Santé Et de la Recherche Médicale, FranceUkendtACL-rivning | ACL - Anterior Cruciate Ligament DeficiencyFrankrig
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Baxter Healthcare CorporationAfsluttetEssential Fatty Acid Deficiency (EFAD)Forenede 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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Chang Gung Memorial HospitalUkendtACL skade | ACL - Forreste korsbåndsruptur | ACL - Anterior Cruciate Ligament DeficiencyTaiwan
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Baxter Healthcare CorporationAfsluttetEssential Fatty Acid Deficiency (EFAD)Forenede Stater
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Children's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development...Trukket tilbageUrea cyklus lidelser, medfødt | Medfødte metabolismefejl | Propionsyreacidæmi | Methylmalonsyreacidæmi | Carbamylphosphatsyntetasemangel
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The Netherlands Cancer InstituteAgenus Inc.RekrutteringResektable MMR-deficiente solide tumorer | Resektable MFR-dygtige solide tumorerHolland
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University Hospital, CaenINSERM U1075 COMETE, UNICAEN, Caen FranceAfsluttetMuskelsvaghed | ACL - Anterior Cruciate Ligament DeficiencyFrankrig
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Steadman Philippon Research InstituteÖssur EhfTrukket tilbageACL | ACL skade | ACL - Forreste korsbåndsruptur | ACL - Anterior Cruciate Ligament DeficiencyForenede Stater
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Nicholas Ah MewIcahn School of Medicine at Mount Sinai; Boston Children's HospitalRekruttering
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AbbVieRekrutteringHuman Immuno-Deficiency Virus (HIV) sygdomForenede Stater, Puerto Rico, Japan, Spanien, Tyskland, Canada, Belgien, Frankrig
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National Human Genome Research Institute (NHGRI)AfsluttetCitrullinæmi | Argininoravsyresyre | Hyperargininæmi | Ornithin carbamoyltransferase mangel | Carbamoyl-phosphatsyntase I mangel | N-acetylglutamatsyntase mangelForenede Stater
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University of North Carolina, Chapel HillAfsluttetUdviklingsmæssig Cochlear Nerve Deficiency | Erhvervet cochlear nerve mangel | Cochlear Aplasia | Post-meningitis Cochlear Ossification | Cochleær misdannelseForenede Stater
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Moscow Regional Research and Clinical Institute...AfsluttetGlykogensyntasekinase 3Den Russiske Føderation
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Mostafa Hassanein, MscAfsluttetACL skade | Knædeformitet | ACL - Anterior Cruciate Ligament Deficiency | Varus deformitet af tibia (lidelse)Egypten
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Merz North America, Inc.AfsluttetKvinde Stress Urininkontinens På grund af Intrinsic Sphincter DeficiencyForenede Stater
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House Research InstituteChildren's Hospital Los Angeles; House Clinic, Inc.Trukket tilbageBilateral cochleær aplasi | Bilateral Cochlear Nerve Deficiency | Bilateral cochlear ossifikation sekundær til meningitisForenede Stater
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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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Baylor College of MedicineAfsluttetCitrullinæmiForenede Stater
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Columbia UniversityNational Institutes of Health (NIH)AfsluttetTuberkulose | HIV (Human Immunodeficiency Virus) | AIDS (Acquired Immune Deficiency Syndrome) | Ikke-overførbare sygdomme (NCD)Kenya
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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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Heinrich-Heine University, DuesseldorfAfsluttetPerifer blod mononukleær celle | Rød blodcelle | Endothelial NO-syntaseTyskland
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Johns Hopkins UniversityNational Institute on Deafness and Other Communication Disorders (NIDCD) og andre samarbejdspartnereAktiv, ikke rekrutterendeLabyrintsygdomme | Vestibulære sygdomme | Sensationsforstyrrelser | Andre forstyrrelser af vestibulær funktion, bilateral | Bilateral Vestibulær Deficiency (BVD) | Gentamicin ototoksicitetForenede 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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Marmara UniversityNational Institute of Allergy and Infectious Diseases (NIAID)UkendtProteintabende enteropatier | CD55 - Cluster of Differentiation Antigen 55 Deficiency | Primær intestinal lymfangiektase | Supplement Regulatory Factor DefektKalkun
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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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Mendel TuchmanChildren's Hospital of Philadelphia; University of California, Los Angeles og andre samarbejdspartnereAfsluttetMethylmalonsyreacidæmi | Carbamoyl-phosphatsyntase I mangelsygdom | Propionsyreacidæmi, Type I og/eller Type II | Ornithin carbamoyltransferase mangelForenede Stater
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University of East AngliaAfsluttetEicosapentaensyre | Kardiovaskulære fysiologiske fænomener | Endothelial nitrogenoxidsyntase | Docosahexaensyre (All-Z-isomer)Det Forenede Kongerige
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Cure CMDCongenital Muscle Disease International RegistrTrukket tilbageLAMA2-MD (Merosin Deficient Congenital Muskeldystrofi, MDC1A)Forenede Stater
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Massachusetts General HospitalAfsluttetAttention Deficit Hyperactivity Disorder (ADHD) | Deficient Emotional Self-Regulation (DESR)Forenede 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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Jirair Krikor BedoyanUltragenyx Pharmaceutical IncRekrutteringPyruvat dehydrogenase kompleks mangelForenede Stater