共 50 条
- [1] Dystonia Due to GM3 Synthase DeficiencyMOVEMENT DISORDERS CLINICAL PRACTICE, 2022, 9 (02): : 236 - 239Wang, Alexander S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Neurol, Med Ctr, Movement Disorders Ctr, 2074 Abington Rd, Cleveland, OH 44106 USA Case Western Reserve Univ, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Neurol, Med Ctr, Movement Disorders Ctr, 2074 Abington Rd, Cleveland, OH 44106 USAKilbane, Camilla论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Neurol, Med Ctr, Movement Disorders Ctr, 2074 Abington Rd, Cleveland, OH 44106 USA Case Western Reserve Univ, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Neurol, Med Ctr, Movement Disorders Ctr, 2074 Abington Rd, Cleveland, OH 44106 USA
- [2] Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiencyEuropean Journal of Human Genetics, 2013, 21 : 528 - 534Konstantina Fragaki论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsSamira Ait-El-Mkadem论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsAnnabelle Chaussenot论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsCatherine Gire论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsRaymond Mengual论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsLaurent Bonesso论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsMarie Bénéteau论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsJean-Ehrland Ricci论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsValérie Desquiret-Dumas论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsVincent Procaccio论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsAgnès Rötig论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical GeneticsVéronique Paquis-Flucklinger论文数: 0 引用数: 0 h-index: 0机构: National Center for Mitochondrial diseases,Department of Medical Genetics
- [3] Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiencyEUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (05) : 528 - 534Fragaki, Konstantina论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France Nice Sophia Antipolis Univ, Sch Med, UNS, IRCAN,INSERM,UMR7284,U1081, F-06107 Nice 2, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceAit-El-Mkadem, Samira论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France Nice Sophia Antipolis Univ, Sch Med, UNS, IRCAN,INSERM,UMR7284,U1081, F-06107 Nice 2, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceChaussenot, Annabelle论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceGire, Catherine论文数: 0 引用数: 0 h-index: 0机构: Marseille Teaching Hosp, Nord Hosp, Dept Neuropediat, Marseille, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceMengual, Raymond论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Dept Biochem, Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceBonesso, Laurent论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Dept Biochem, Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceBeneteau, Marie论文数: 0 引用数: 0 h-index: 0机构: Fac Med Nice, INSERM, Ctr Mediterraneen Med Mol C3M, Team Controle Metab Morts Cellulaires 3,U1065, F-06034 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceRicci, Jean-Ehrland论文数: 0 引用数: 0 h-index: 0机构: Fac Med Nice, INSERM, Ctr Mediterraneen Med Mol C3M, Team Controle Metab Morts Cellulaires 3,U1065, F-06034 Nice, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FranceDesquiret-Dumas, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, INSERM, CNRS, UMR 6214,U1083, Angers, France Angers Teaching Hosp, Dept Biochem & Genet, Angers, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France论文数: 引用数: h-index:机构:Roetig, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, Paris, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, FrancePaquis-Flucklinger, Veronique论文数: 0 引用数: 0 h-index: 0机构: Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France Nice Sophia Antipolis Univ, Sch Med, UNS, IRCAN,INSERM,UMR7284,U1081, F-06107 Nice 2, France Nice Teaching Hosp, Natl Ctr Mitochondrial Dis, Dept Med Genet, Nice, France
- [4] GM3 synthase deficiency causes lysosomal and mitochondria impairmentJOURNAL OF NEUROCHEMISTRY, 2023, 166 : 154 - 154Carsana, Emma Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Inamori, Kei-Ichiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi, Japan Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyInokuchi, Jin-Ichi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi, Japan Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy论文数: 引用数: h-index:机构:Chiricozzi, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy论文数: 引用数: h-index:机构:
- [5] Etiology of vision loss in ganglioside GM3 synthase deficiencyOPHTHALMIC GENETICS, 2006, 27 (03) : 89 - 91Farukhi, Fahhad论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USADakkouri, Claudia论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USAWang, Heng论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USAWiztnitzer, Max论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USATraboulsi, Elias I.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USA
- [6] GM3 synthase deficiency in non-Amish patientsGENETICS IN MEDICINE, 2022, 24 (02) : 492 - 498Heide, Solveig论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Grp Hosp Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceJacquemont, Marie-Line论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ La Reunion, Unite Fonct Genet Med, St Pierre, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceCheillan, David论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Ctr Biol & Pathol Est, Serv Biochim & Biol Mol, Bron, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceRenouil, Michel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ La Reunion, Serv Pediatrie, St Pierre, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceTallot, Marilyn论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ La Reunion, Serv Pediatrie, St Pierre, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceSchwartz, Charles E.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceMiquel, Juliette论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ La Reunion, Unite Fonct Dermato Logie Pediat, St Pierre, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceBintner, Marc论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ La Reunion, Serv Imagerie Med, St Pierre, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France论文数: 引用数: h-index:机构:Darcel, Francoise论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ La Reunion, Ctr Maladie Neurol Rares, St Pierre, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceBuratti, Julien论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceHaye, Damien论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Grp Hosp Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France论文数: 引用数: h-index:机构:Gras, Domitille论文数: 0 引用数: 0 h-index: 0机构: Nord Univ Paris, Hop Robert Debre, AP HP, Serv Neuropediatrie, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FrancePerrin, Laurence论文数: 0 引用数: 0 h-index: 0机构: Nord Univ Paris, Hop Robert Debre, AP HP, Serv Genet, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceCapri, Yline论文数: 0 引用数: 0 h-index: 0机构: Nord Univ Paris, Hop Robert Debre, AP HP, Serv Genet, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceGerard, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FrancePiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceThauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceDuffourd, Yannis论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FrancePoe, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FrancePerville, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants St Denis, Serv Med Phys, St Denis, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Grp Hosp Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceThevenon, Julien论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Federat Hospitalo Univ Med TRANSLat & Anomalies D, Equipe Genet Dev Anomalies INSERM UMR 1231, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceArnaud, Lionel论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceLeGuern, Eric论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Sorbonne Univ, Inst Cerveau, INSERM, Paris, France Euro EPINOMICS RES Consortium, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceLa Selva, Lorita论文数: 0 引用数: 0 h-index: 0机构: San Paolo Hosp, Ctr Dev Epilepsy & EEG, Bari, Italy Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceVetro, Annalisa论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Meyer Childrens Hosp, Pediat Neurol Neurogenet & Neurobiol Unit & Labs, Florence, Italy Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, FranceGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Euro EPINOMICS RES Consortium, Paris, France Univ Florence, Meyer Childrens Hosp, Pediat Neurol Neurogenet & Neurobiol Unit & Labs, Florence, Italy Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France论文数: 引用数: h-index:机构:Mignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France Grp Hosp Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Sorbonne Univ, Inst Cerveau, INSERM, Paris, France Euro EPINOMICS RES Consortium, Paris, France Sorbonne Univ, Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, 47-83 Bd Hop, F-75013 Paris, France
- [7] Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiencyAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (04) : 875 - 879Wang, Heng论文数: 0 引用数: 0 h-index: 0机构: DDC Clin Special Needs Children, Middlefield, OH 44062 USA Case Western Reserve Univ, Sch Med, Dept Pediat, Cleveland, OH 44106 USA Rainbow Babies & Childrens Hosp, Cleveland, OH 44106 USA Cleveland Clin, Dept Mol Cardiol, Cleveland, OH 44106 USA DDC Clin Special Needs Children, Middlefield, OH 44062 USABright, Alicia论文数: 0 引用数: 0 h-index: 0机构: DDC Clin Special Needs Children, Middlefield, OH 44062 USA DDC Clin Special Needs Children, Middlefield, OH 44062 USAXin, Baozhong论文数: 0 引用数: 0 h-index: 0机构: DDC Clin Special Needs Children, Middlefield, OH 44062 USA DDC Clin Special Needs Children, Middlefield, OH 44062 USABockoven, J. R.论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Ctr Heart, Akron, OH USA DDC Clin Special Needs Children, Middlefield, OH 44062 USAPaller, Amy S.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Dermatol, Feinberg Sch Med, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA DDC Clin Special Needs Children, Middlefield, OH 44062 USA
- [8] GM3 synthase deficiency increases brain glucose metabolism in miceMOLECULAR GENETICS AND METABOLISM, 2022, 137 (04) : 342 - 348Bharathi, Sivakama S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAZhang, Bob B.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAPaul, Eli论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAZhang, Yuxun论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USASchmidt, Alexandra V.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAFowler, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAWu, Yijen论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, UPMC Childrens Hosp Pittsburgh, Dept Dev Biol, Pittsburgh, PA USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USATiemeyer, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Complex Carbohydrate Res Ctr, Athens, GA USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAInamori, Kei-ichiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi 9818558, Japan Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAInokuchi, Jin-ichi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi 9818558, Japan Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USAGoetzman, Eric S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Pediat, Div Genet & Genom Med, Sch Med, Pittsburgh, PA 15213 USA
- [9] Ganglioside GM3 Synthase Deficiency in Mouse Models and Human PatientsINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (10)Inamori, Kei-ichiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi 9818558, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi 9818558, JapanInokuchi, Jin-ichi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi 9818558, Japan Osaka Univ, Grad Sch Sci, Forefront Res Ctr, Toyonaka, Osaka 5600043, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi 9818558, Japan
- [10] NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN GANGLIOSIDE GM3 SYNTHASE DEFICIENCYJOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS, 2020, 34 (03): : 1157 - 1162Liang, R-X.论文数: 0 引用数: 0 h-index: 0机构: Henan Univ Chinese Med, Zhengzhou, Peoples R China Henan Univ Chinese Med, Zhengzhou, Peoples R ChinaZheng, H.论文数: 0 引用数: 0 h-index: 0机构: Henan Univ Chinese Med, Zhengzhou, Peoples R China Henan Univ Chinese Med, Zhengzhou, Peoples R ChinaYang, Y-L.论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Henan Univ Chinese Med, Zhengzhou, Peoples R China