Kliniske forsøg med SLC13A5 mangel
I alt 9071 resultater
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Irina A AnselmIkke længere tilgængeligCitrattransportørmangel | SLC13A5 genmutationForenede Stater
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TESS Research FoundationStanford UniversityTilmelding efter invitationEpilepsi | Bevægelsesforstyrrelser | Sjældne sygdomme | Genetisk lidelse | Citrattransportørmangel | SLC13A5 mangel | EIEE25 | Kohlschutter-Tonz syndrom (ikke-ROGDI) | 17p13.1 Deletioner begrænset til SLC13A5-genet | Citrattransportør lidelseForenede Stater
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Roy E. Weiss, M.D.LedigMct8 (Slc16A2)-specifik mangel på skjoldbruskkirtelhormoncelletransportørForenede Stater
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TESS Research FoundationBrown University; Stanford University; University of Texas Southwestern Medical...RekrutteringEpilepsi | Bevægelsesforstyrrelser | Sjældne sygdomme | Genetisk lidelse | Citrattransportørmangel | SLC13A5 mangel | EIEE25 | Kohlschutter-Tonz syndrom (ikke-ROGDI) | Citrattransportør lidelse | DEE25Forenede Stater
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Damascus UniversityAfsluttetSkelet Maxillary Transversal DeficiencySyrien Arabiske Republik
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GCS Ramsay Santé pour l'Enseignement et la RechercheRekrutteringACL - Anterior Cruciate Ligament DeficiencyFrankrig
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Cairo UniversityIkke rekrutterer endnuSocket Preservation, Alveolar Ridge Deficiency, Alveolar Ridge Preservation
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M.D. Anderson Cancer CenterRegeneron PharmaceuticalsIkke rekrutterer endnuSMARCB1-deficiente maligniteterForenede 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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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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GCS Ramsay Santé pour l'Enseignement et la RechercheRekrutteringACL - Anterior Cruciate Ligament DeficiencyFrankrig
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OrthoCarolina Research Institute, Inc.Tilmelding efter invitationACL skade | ACL-rivning | ACL - Anterior Cruciate Ligament DeficiencyForenede 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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Baxter Healthcare CorporationAfsluttetEssential Fatty Acid Deficiency (EFAD)Forenede Stater
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Chang Gung Memorial HospitalUkendtACL skade | ACL - Forreste korsbåndsruptur | ACL - Anterior Cruciate Ligament DeficiencyTaiwan
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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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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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AbbVieRekrutteringHuman Immuno-Deficiency Virus (HIV) sygdomForenede Stater, Puerto Rico, Japan, Spanien, Tyskland, Canada, Belgien, Frankrig, Polen, Sydafrika, Italien
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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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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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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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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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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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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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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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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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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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Ikena OncologyRekrutteringSolid tumor | Solide tumorer, voksen | Malignt Pleural Mesotheliom (MPM) | Epithelioid Hemangioendothelioma (EHE) | NF2 mangelfuld mesotheliom | Andre NF2-deficiente solide tumorer og solide tumorer med YAP1/TAZ-fusionsgener | NF2 mangel | YAP1 eller TAZ Gene FusionsForenede Stater, Det Forenede Kongerige
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SanofiRekrutteringAcid Sphingomyelinase Deficiency (ASMD)Frankrig
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Laurie EisenbergChildren's Hospital Los Angeles; Huntington Medical Research Institutes; Keck...UkendtDybtgående bilateral døvhed pga | Bilateral cochleær aplasi | Bilateral Cochlear Nerve Deficiency | Bilateral cochlear ossifikation sekundær til meningitisForenede Stater
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Oslo University HospitalAktiv, ikke rekrutterende
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Susan Chi, MDBristol-Myers Squibb; Epizyme, Inc.RekrutteringChordoma | Epiteloid sarkom | Atypisk teratoide rhabdoid tumor | INI1 (SMARCB1)-Deficiente primære CNS maligne tumorer | SMARCA4-deficiente primære CNS ondartede tumorer | Ondartet rhabdoid tumor (MRT) | Rhabdoid tumor i nyren (RTK)Forenede Stater
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Third Affiliated Hospital, Sun Yat-Sen UniversityRekrutteringKolorektal cancer | Neoadjuverende terapi | Mismatch Repair-deficient (dMMR) | Microsatellite Instability-high (MSI-H)Kina
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Sun Yat-sen UniversityRekrutteringKolorektal cancer | Neoadjuverende terapi | Mismatch Repair-deficient (dMMR) | Microsatellite Instability-high (MSI-H)Kina
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Johns Hopkins UniversityNational Institute on Aging (NIA); Labyrinth Devices, LLCRekrutteringLabyrintsygdomme | Vestibulære sygdomme | Sensationsforstyrrelser | Bilateral Vestibulopati | Andre forstyrrelser af vestibulær funktion, bilateral | Bilateral Vestibulær Deficiency (BVD) | Gentamicin ototoksicitet | Bilateral vestibulær hypofunktion | Aminoglycosid Ototoksicitet | PresbyvestibulopatiForenede Stater
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Johns Hopkins UniversityNational Institute on Deafness and Other Communication Disorders (NIDCD) og andre samarbejdspartnereRekrutteringLabyrintsygdomme | Vestibulære sygdomme | Sensationsforstyrrelser | Bilateral Vestibulopati | Andre forstyrrelser af vestibulær funktion, bilateral | Bilateral Vestibulær Deficiency (BVD) | Gentamicin ototoksicitet | Bilateral vestibulær hypofunktion | Aminoglycosid OtotoksicitetForenede Stater
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Memorial Sloan Kettering Cancer CenterAfsluttetMetastatisk nyrecellekarcinom | Fumarat Hydratase mangelfuld nyrecellekarcinom | Succinatdehydrogenase-deficient nyrecellekarcinomForenede Stater
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LiuYingIkke rekrutterer endnuKolorektal cancer | Neoadjuverende terapi | Mismatch Repair-deficient (dMMR) | Microsatellite Instability-high (MSI-H)Kina
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Nutrition Institute, SloveniaEuropean Regional Development Fund; Vizera d.o.o.; Frutarom Etol d.o.o.AfsluttetVitamin B 12 mangel | D-vitamin mangel | ProteinmangelSlovenien
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Washington University School of MedicineUniversity of California, Davis; Universidad San Francisco de Quito; Pan...AfsluttetCholin mangel | Vitamin B-12 mangel | Lipidmangel | AminosyremangelEcuador
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Eli Lilly and CompanyAfsluttetVæksthormonmangel (GH). | Short Statur Homeobox-indeholdende gen (SHOX) mangel | SHOX mangelrelateret lidelse | Ikke-GH-mangel-vækstforstyrrelser
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Sun Yat-sen UniversityRekrutteringKolorektal cancer stadium IV | Mismatch Repair-deficient (dMMR) | Microsatellite Instability-high (MSI-H)Kina