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- [1] 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
- [2] 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
- [3] 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
- [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] A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformationBRAIN & DEVELOPMENT, 2018, 40 (06): : 480 - 483Bamborschke, Daniel论文数: 0 引用数: 0 h-index: 0机构: Ctr Mol Med Cologne, Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyPergande, Matthias论文数: 0 引用数: 0 h-index: 0机构: Ctr Mol Med Cologne, Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyBecker, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Ctr Mol Med Cologne, Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyKoerber, Friederike论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat Radiol, Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyDoetsch, Joerg论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyVierzig, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyWeber, Lutz T.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, GermanyCirak, Sebahattin论文数: 0 引用数: 0 h-index: 0机构: Ctr Mol Med Cologne, Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50937 Cologne, Germany Ctr Mol Med Cologne, Cologne, Germany
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- [9] Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic SyndromeHORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 65 - 66Prasad, Rathi论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, 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, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandVanVeldhoven, Paul论文数: 0 引用数: 0 h-index: 0机构: KULeuven, LIPIT, Leuven, Belgium Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandBuonocore, Federica论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Genet & Genom Med, Inst Child Hlth, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandBarbagaleta, 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, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandBergada, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol, CEDIE, Dr Cesar Bergada,CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandCassinelli, Hamilton论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol, CEDIE, Dr Cesar Bergada,CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandDas, Urmi论文数: 0 引用数: 0 h-index: 0机构: Alder Hey Childrens Hosp, Dept Paediat Endocrinol, Liverpool, Merseyside, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandKrone, Ruth论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Paediat Endocrinol, Birmingham, W Midlands, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandSaleem, Moin论文数: 0 引用数: 0 h-index: 0机构: Bristol Royal Hosp Children, Bristol Childrens Renal Unit, Bristol, Avon, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandHacihamdioglu, Bulent论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Univ, Suleymaniye Matern & Childrens Training & Res Hos, Dept Pediat Endocrinol & Diabet, Istanbul, Turkey Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandSari, Erkan论文数: 0 引用数: 0 h-index: 0机构: Gulhane Mil Med Acad, Dept Pediat Endocrinol & Diabet, Ankara, Turkey Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandStorr, Helen论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandAchermann, John论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Genet & Genom Med, Inst Child Hlth, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandGuasti, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandBraslavsky, Debora论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol, CEDIE, Dr Cesar Bergada,CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandGuran, Tulay论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol & Diabet, Pend Educ & Res Hosp, Istanbul, Turkey Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandRam, Nanik论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ Hosp, Dept Med, Sect Endocrinol, Karachi, Pakistan Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, EnglandMetherell, Lou论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England
- [10] MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency SyndromeAMERICAN JOURNAL OF NEURORADIOLOGY, 2020, 41 (10) : 1943 - 1948Martin, K. W.论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USA UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USAWeaver, N.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USAAlhasan, K.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Pediat, Riyadh, Saudi Arabia UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USAGumus, E.论文数: 0 引用数: 0 h-index: 0机构: Harran Univ, Dept Med, Sanliurfa, Turkey UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USASullivan, B. R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy, Div Clin Genet, Kansas City, MO USA Univ Missouri, Dept Pediat, Kansas City, MO 64110 USA UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USAZenker, M.论文数: 0 引用数: 0 h-index: 0机构: Otto von Guericke Univ, Inst Genet, Magdeburg, Germany UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USAHildebrandt, F.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Pediat, Boston, MA 02115 USA UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USASaba, J. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Dept Pediat, San Francisco, CA 94143 USA UCSF Benioff Childrens Hosp Oakland, Dept Radiol KWM, Oakland, CA USA