共 50 条
- [11] 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
- [12] Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylationGLYCOBIOLOGY, 2019, 29 (03) : 229 - 241Indellicato, Rossella论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, Italy论文数: 引用数: h-index:机构:Domenighini, Ruben论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, ItalyMalagolini, Nadia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Expt Diagnost & Specialty Med DIMES, Via San Giacomo 14, I-40126 Bologna, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, ItalyIascone, Maria论文数: 0 引用数: 0 h-index: 0机构: Papa Giovanni XXIII Hosp, Lab Genet, Piazza OMS 1, I-24127 Bergamo, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, ItalyGasperini, Serena论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, San Gerardo Hosp, Dept Pediat, Fdn MBBM, Via Pergolesi 33, I-20900 Monza, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, ItalyMasera, Nicoletta论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, San Gerardo Hosp, Dept Pediat, Fdn MBBM, Via Pergolesi 33, I-20900 Monza, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, Italy论文数: 引用数: h-index:机构:Trinchera, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Insubria, Dept Med & Surg DMC, Via JH Dunant 5, I-21100 Varese, Italy Univ Milan, San Paolo Hosp, Dept Hlth Sci, Via A Rudini 8, I-20142 Milan, Italy
- [13] 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:
- [14] 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
- [15] 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
- [16] 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
- [17] Applying Glycomic Technology to Investigate the Consequences of Altered Glycosylation in Human ST3GAL5 DeficiencyTRENDS IN GLYCOSCIENCE AND GLYCOTECHNOLOGY, 2018, 30 (173) : E33 - E40Aoki, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Complex Carbohydrate Res Ctr, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, Athens, GA 30602 USATiemeyer, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Complex Carbohydrate Res Ctr, Athens, GA 30602 USA Univ Georgia, Dept Biochem & Mol Biol, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, Athens, GA 30602 USA
- [18] 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
- [19] 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
- [20] 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