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- [1] A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple EndocrinopathyFRONTIERS IN PEDIATRICS, 2020, 8论文数: 引用数: h-index:机构:Theodorou, Demetria论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Dept Paediat Nephrol, Manchester, Lancs, England Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, EnglandBanerjee, Indraneel论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchester, Lancs, England Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, EnglandMetherell, Louise A.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, England Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, EnglandPrasad, Rathi论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, England Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, EnglandWallace, Dean论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Dept Paediat Nephrol, Manchester, Lancs, England Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, John Vane Sci Ctr, London, England
- [2] Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsHUMAN MUTATION, 2017, 38 (04) : 365 - 372Janecke, Andreas R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Div Human Genet, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaXu, Ruijuan论文数: 0 引用数: 0 h-index: 0机构: SUNY Stony Brook, Dept Med, Stony Brook, NY 11794 USA SUNY Stony Brook, Stony Brook Canc Ctr, Stony Brook, NY 11794 USA Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaSteichen-Gersdorf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaWaldegger, Siegfried论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaEntenmann, Andreas论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaGiner, Thomas论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaKrainer, Iris论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria论文数: 引用数: h-index:机构:Hess, Michael W.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Histol & Embryol, Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaFrishberg, Yaacov论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Div Pediat Nephrol, Jerusalem, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaBarash, Hila论文数: 0 引用数: 0 h-index: 0机构: Sheba Med Ctr, Inst Genet, Inst Rare Dis, Tel Hashomer, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaTzur, Shay论文数: 0 引用数: 0 h-index: 0机构: Rambam Health Care Campus, Lab Mol Med, Haifa, Israel Emedgene Technol, Gen Res Dept, Tel Aviv, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaSchreyer-Shafir, Nira论文数: 0 引用数: 0 h-index: 0机构: Meir Med Ctr, Genet Inst, Kefar Sava, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaSukenik-Halevy, Rivka论文数: 0 引用数: 0 h-index: 0机构: Meir Med Ctr, Genet Inst, Kefar Sava, Israel Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaZehavi, Tania论文数: 0 引用数: 0 h-index: 0机构: Meir Med Ctr, Dept Pathol, Kefar Sava, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaRaas-Rothschild, Annick论文数: 0 引用数: 0 h-index: 0机构: Sheba Med Ctr, Inst Genet, Inst Rare Dis, Tel Hashomer, Israel Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaMao, Cungui论文数: 0 引用数: 0 h-index: 0机构: SUNY Stony Brook, Dept Med, Stony Brook, NY 11794 USA SUNY Stony Brook, Stony Brook Canc Ctr, Stony Brook, NY 11794 USA Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, AustriaMueller, Thomas论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat 1, Anichstr 35, A-6020 Innsbruck, Austria
- [3] NEPHROTIC SYNDROME WITH MUTATION IN SPHINGOSINE-1-PHOSPHATE LYASE: 6 CASESPEDIATRIC NEPHROLOGY, 2021, 36 (10) : 3476 - 3476Ozturk, Tugba Tastemel论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, TurkeyCanpolat, Nur论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Nephrol, Istanbul, Turkey Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, TurkeySaygili, Seha论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Nephrol, Istanbul, Turkey Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, TurkeyBayrakci, Umut Selda论文数: 0 引用数: 0 h-index: 0机构: Ankara Yildirim Beyazit Univ, Ankara City Hosp, Dept Pediat Nephrol, Fac Med, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, TurkeySoylemezoglu, Oguz论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Dept Pediat Nephrol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, Turkey论文数: 引用数: h-index:机构:Topaloglu, Rezan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Ankara, Turkey
- [4] Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic SyndromeHORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 1 - 2Braslavsky, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaBarbagelata, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaPrasad, R.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaCassinelli, H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina论文数: 引用数: h-index:机构:Piantanida, J. J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaWainberg, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaVallejo, G.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaMetherell, L.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, ArgentinaBergada, I论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina
- [5] Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndromeJOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (03): : 942 - 953Prasad, Rathi论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandHadjidemetriou, Irene论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England论文数: 引用数: h-index:机构:Meimaridou, Eirini论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandBuonocore, Federica论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandSaleem, Moin论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Childrens & Acad Renal Unit, Bristol, Avon, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandHurcombe, Jenny论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Childrens & Acad Renal Unit, Bristol, Avon, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandBierzynska, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Childrens & Acad Renal Unit, Bristol, Avon, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandBarbagelata, Eliana论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandBergada, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, CONICET, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandCassinelli, Hamilton论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, CONICET, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandDas, Urmi论文数: 0 引用数: 0 h-index: 0机构: Alderhey Childrens Hosp NHS Fdn Trust, Eaton Rd, Liverpool, Merseyside, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandKrone, Ruth论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Birmingham, W Midlands, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandHacihamdioglu, Bulent论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Univ, Dept Paediat Endocrinol & Diabet, Suleymaniye Matern & Childrens Training & Res Hos, Istanbul, Turkey Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandSari, Erkan论文数: 0 引用数: 0 h-index: 0机构: Gulhane Mil Med Acad, Dept Paediat Endocrinol & Diabet, Ankara, Turkey Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandYesilkaya, Ediz论文数: 0 引用数: 0 h-index: 0机构: Gulhane Mil Med Acad, Dept Paediat Endocrinol & Diabet, Ankara, Turkey Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandStorr, Helen L.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandClemente, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Inst Salud Carlos 3, Vall dHebron Res Inst VHIR, Growth & Dev Res Unit,CIBERER, Barcelona, Spain Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandFernandez-Cancio, Monica论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Inst Salud Carlos 3, Vall dHebron Res Inst VHIR, Growth & Dev Res Unit,CIBERER, Barcelona, Spain Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandCamats, Nuria论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Inst Salud Carlos 3, Vall dHebron Res Inst VHIR, Growth & Dev Res Unit,CIBERER, Barcelona, Spain Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandRam, Nanik论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ Hosp, Dept Med, Karachi, Pakistan Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandAchermann, John C.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandVan Veldhoven, Paul P.论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Lab Lipid Biochem & Prot Interact LIPIT, Campus Gasthuisberg, Leuven, Belgium Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandGuasti, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandBraslavsky, Debora论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, CONICET, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandGuran, Tulay论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Paediat Endocrinol & Diabet, Istanbul, Turkey Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, EnglandMetherell, Louise A.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England Queen Mary Univ London, John Vane Sci Ctr, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England
- [6] Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencyJOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (03): : 912 - 928Lovric, Svjetlana论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAGoncalves, Sara论文数: 0 引用数: 0 h-index: 0机构: INSERM, Lab Hereditary Kidney Dis, Unite Mixte Rech 1163, Paris, France Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, Paris, France Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA论文数: 引用数: h-index:机构:Oskouian, Babak论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASrinivas, Honnappa论文数: 0 引用数: 0 h-index: 0机构: Novartis Inst BioMed Res, Basel, Switzerland Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAChoi, Won-Il论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAShril, Shirlee论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAAshraf, Shazia论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USATan, Weizhen论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USARao, Jia论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAAirik, Merlin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASchapiro, David论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USABraun, Daniela A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASadowski, Carolin E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAWidmeier, Eugen论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Univ Freiburg, Div Renal, Dept Med, Med Ctr,Fac Med, Freiburg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAJobst-Schwan, Tilman论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASchmidt, Johanna Magdalena论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAGirik, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Natl Ctr Competence Res NCCR Chem Biol, Geneva, Switzerland Univ Geneva, Dept Biochem, Geneva, Switzerland Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USACapitani, Guido论文数: 0 引用数: 0 h-index: 0机构: Paul Scherrer Inst, Lab Biomol Res, Villigen, Switzerland Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASuh, Jung H.论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USALachaussee, Noelle论文数: 0 引用数: 0 h-index: 0机构: INSERM, Lab Hereditary Kidney Dis, Unite Mixte Rech 1163, Paris, France Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, Paris, France Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA论文数: 引用数: h-index:机构:Patat, Julie论文数: 0 引用数: 0 h-index: 0机构: INSERM, Lab Hereditary Kidney Dis, Unite Mixte Rech 1163, Paris, France Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, Paris, France Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA论文数: 引用数: h-index:机构:Furlano, Monica论文数: 0 引用数: 0 h-index: 0机构: INSERM, Lab Hereditary Kidney Dis, Unite Mixte Rech 1163, Paris, France Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, Paris, France Univ Autonoma Barcelona, IIB St Pau, Fundacio Puigvert, Nephrol Dept,REDinREN,Inst Invest Carlos 3, Barcelona, Spain Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USABoyer, Olivia论文数: 0 引用数: 0 h-index: 0机构: INSERM, Lab Hereditary Kidney Dis, Unite Mixte Rech 1163, Paris, France Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, Paris, France Hop Necker Enfants Malad, AP HP, Dept Pediat Nephrol, Paris, France Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASchmitt, Alain论文数: 0 引用数: 0 h-index: 0机构: Inst Cochin, Inst Natl Sante & Rech Med 1016, Plateforme Microscopie Elect, Paris, France CNRS, Unite Mixte Rech 81044, Paris, France Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAVuiblet, Vincent论文数: 0 引用数: 0 h-index: 0机构: CNRS, Unite Mixte Rech 7369, Lab Matrice Extracellulaire & Dynam Cellulaire, Reims, France Ctr Hosp & Univ Reims, Nephrol & Renal Transplantat Dept, Reims, France Ctr Hosp & Univ Reims, Biopathol Lab, Reims, France Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAHashmi, Seema论文数: 0 引用数: 0 h-index: 0机构: Sindh Inst Urol & Transplantat, Dept Pediat Nephrol, Karachi, Pakistan Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAWilcken, Rainer论文数: 0 引用数: 0 h-index: 0机构: Novartis Inst BioMed Res, Basel, Switzerland Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USABernier, Francois P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Hlth Serv, Dept Med Genet, Calgary, AB, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Hlth Serv, Dept Med Genet, Calgary, AB, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAParboosingh, Jillian S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Hlth Serv, Dept Med Genet, Calgary, AB, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USALamont, Ryan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Hlth Serv, Dept Med Genet, Calgary, AB, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAMidgley, Julian P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Hlth Serv, Dept Pediat, Calgary, AB, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAWright, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Hlth Serv, Dept Pediat, Calgary, AB, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAMajewski, Jacek论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA论文数: 引用数: h-index:机构:Kuss, Navina论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Ctr Pediat & Adolescent Med, Dept Neonatol, Heidelberg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAGreil, Johann论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Ctr Pediat & Adolescent Med, Dept Pediat Hematol & Oncol, Heidelberg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA论文数: 引用数: h-index:机构:Schwarz, Klaus论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Transfus Med, Ulm, Germany German Red Cross Blood Serv Baden Wurttemberg Hes, Inst Clin Transfus Med & Immunogenet Ulm, Ulm, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USACatheline, Vilain论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, ULB Ctr Human Genet, Hop Erasme, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASchanze, Denny论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAFranke, Ingolf论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Dept Dermatol, Magdeburg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USASznajer, Yves论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USATruant, Anne S.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Ctr Human Genet, Pediat Neonatol, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USAAdams, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola HUDERF, Nephrol Ped, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USADesir, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, ULB Ctr Human Genet, Hop Erasme, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA
- [7] Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiencyBMC Neurology, 18Gulin Sunter论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyEce Oge Enver论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyAzad Akbarzade论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologySerap Turan论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyPinar Vatansever论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyDilek Ince Gunal论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyGoncagul Haklar论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyAbdullah Bereket论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyKadriye Agan论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of NeurologyTulay Guran论文数: 0 引用数: 0 h-index: 0机构: Marmara University,Department of Neurology
- [8] Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiencyBMC NEUROLOGY, 2018, 18Sunter, Gulin论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Neurol, Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyEnver, Ece Oge论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Paediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyAkbarzade, Azad论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Paediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyTuran, Serap论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Paediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyVatansever, Pinar论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Biochem, Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyGunal, Dilek Ince论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Neurol, Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyHaklar, Goncagul论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Biochem, Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyBereket, Abdullah论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Paediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyAgan, Kadriye论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Neurol, Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, TurkeyGuran, Tulay论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Paediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey Marmara Univ, Dept Neurol, Istanbul, Turkey
- [9] Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic SyndromeKIDNEY INTERNATIONAL REPORTS, 2019, 4 (12): : 1763 - 1769Taylor, Veronica A.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USAStone, Hillarey K.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USASchuh, Meredith P.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USAZhao, Xueheng论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USASetchell, Kenneth D.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USAErkan, Elif论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Nephrol & Hypertens, 3333 Burnet Ave,MLC 7022, Cincinnati, OH 45229 USA
- [10] A rare cause of nephrotic syndrome – sphingosine-1-phosphate lyase (SGPL1) deficiency: 2 casesPediatric Nephrology, 2023, 38 : 307 - 308Ana Paula Spizzirri论文数: 0 引用数: 0 h-index: 0机构: Hospital de Niños Superiora Sor Maria Ludovica,Department of NephrologyCarlos José Cobeñas论文数: 0 引用数: 0 h-index: 0机构: Hospital de Niños Superiora Sor Maria Ludovica,Department of NephrologyAngela del Carmen Suarez论文数: 0 引用数: 0 h-index: 0机构: Hospital de Niños Superiora Sor Maria Ludovica,Department of Nephrology