共 9 条
[1]
Aguilar Ana, 2012, Adv Biol Regul, V52, P17
[2]
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
[J].
Bamborschke, Daniel
;
Pergande, Matthias
;
Becker, Kerstin
;
Koerber, Friederike
;
Doetsch, Joerg
;
Vierzig, Anne
;
Weber, Lutz T.
;
Cirak, Sebahattin
.
BRAIN & DEVELOPMENT,
2018, 40 (06)
:480-483

Bamborschke, 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, Germany

Pergande, 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, Germany

Becker, 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, Germany

Koerber, 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, Germany

Doetsch, 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, Germany

Vierzig, 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, Germany

Weber, 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, Germany

Cirak, 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
[3]
Nephrotic syndrome in the first year of life:: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
[J].
Hinkes, Bernward G.
;
Mucha, Bettina
;
Vlangos, Christopher N.
;
Gbadegesin, Rasheed
;
Liu, Jinhong
;
Hasselbachera, Katrin
;
Hangan, Daniela
;
Ozaltin, Fatih
;
Zenker, Martin
;
Hildebrandt, Friedhelm
.
PEDIATRICS,
2007, 119 (04)
:E907-E919

Hinkes, Bernward G.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Mucha, Bettina
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Vlangos, Christopher N.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Gbadegesin, Rasheed
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Liu, Jinhong
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Hasselbachera, Katrin
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Hangan, Daniela
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

论文数: 引用数:
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机构:

Zenker, Martin
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

Hildebrandt, Friedhelm
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA
[4]
Sphingosine 1-phosphate (S1P) Physiology and the effects of S1P receptor modulation
[J].
Hla, Timothy
;
Brinkmann, Volker
.
NEUROLOGY,
2011, 76 (08)
:S3-S8

Hla, Timothy
论文数: 0 引用数: 0
h-index: 0
机构:
Cornell Univ, Weill Cornell Med Coll, Dept Pathol & Lab Med, Ctr Vasc Biol, New York, NY 10065 USA Cornell Univ, Weill Cornell Med Coll, Dept Pathol & Lab Med, Ctr Vasc Biol, New York, NY 10065 USA

Brinkmann, Volker
论文数: 0 引用数: 0
h-index: 0
机构:
Novartis Inst BioMed Res, Basel, Switzerland Cornell Univ, Weill Cornell Med Coll, Dept Pathol & Lab Med, Ctr Vasc Biol, New York, NY 10065 USA
[5]
Sphingolipid signaling in renal fibrosis
[J].
Huwiler, Andrea
;
Pfeilschifter, Josef
.
MATRIX BIOLOGY,
2018, 68-69
:230-247

Huwiler, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bern, Inst Pharmacol, Inseispital INO F, CH-3010 Bern, Switzerland Univ Bern, Inst Pharmacol, Inseispital INO F, CH-3010 Bern, Switzerland

Pfeilschifter, Josef
论文数: 0 引用数: 0
h-index: 0
机构:
Goethe Univ, Univ Hosp Frankfurt, Inst Gen Pharmacol & Toxicol, Frankfurt, Germany Univ Bern, Inst Pharmacol, Inseispital INO F, CH-3010 Bern, Switzerland
[6]
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications
[J].
Janecke, Andreas R.
;
Xu, Ruijuan
;
Steichen-Gersdorf, Elisabeth
;
Waldegger, Siegfried
;
Entenmann, Andreas
;
Giner, Thomas
;
Krainer, Iris
;
Huber, Lukas A.
;
Hess, Michael W.
;
Frishberg, Yaacov
;
Barash, Hila
;
Tzur, Shay
;
Schreyer-Shafir, Nira
;
Sukenik-Halevy, Rivka
;
Zehavi, Tania
;
Raas-Rothschild, Annick
;
Mao, Cungui
;
Mueller, Thomas
.
HUMAN MUTATION,
2017, 38 (04)
:365-372

Janecke, 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, Austria

Xu, 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, Austria

Steichen-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, Austria

Waldegger, 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, Austria

Entenmann, 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, Austria

Giner, 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

Krainer, 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:
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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, Austria

Frishberg, 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, Austria

Barash, 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, Austria

Tzur, 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, Austria

Schreyer-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, Austria

Sukenik-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, Austria

Zehavi, 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, Austria

Raas-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, Austria

Mao, 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, Austria

Mueller, 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
[7]
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1
[J].
Linhares, Natalia Duarte
;
Arantes, Rodrigo Rezende
;
Araujo, Stanley Almeida
;
Pena, Sergio D. J.
.
CLINICAL KIDNEY JOURNAL,
2018, 11 (04)
:462-467

Linhares, Natalia Duarte
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil
Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil

Arantes, Rodrigo Rezende
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Minas Gerais, Hosp Clin, Serv Especial Genet, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil

Araujo, Stanley Almeida
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Minas Gerais, Ctr Microscopia Eletron, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil

Pena, Sergio D. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil
Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil
Nuleo Genet Med, Lab Gene, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil
[8]
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
[J].
Lovric, Svjetlana
;
Goncalves, Sara
;
Gee, Heon Yung
;
Oskouian, Babak
;
Srinivas, Honnappa
;
Choi, Won-Il
;
Shril, Shirlee
;
Ashraf, Shazia
;
Tan, Weizhen
;
Rao, Jia
;
Airik, Merlin
;
Schapiro, David
;
Braun, Daniela A.
;
Sadowski, Carolin E.
;
Widmeier, Eugen
;
Jobst-Schwan, Tilman
;
Schmidt, Johanna Magdalena
;
Girik, Vladimir
;
Capitani, Guido
;
Suh, Jung H.
;
Lachaussee, Noelle
;
Arrondel, Christelle
;
Patat, Julie
;
Gribouval, Olivier
;
Furlano, Monica
;
Boyer, Olivia
;
Schmitt, Alain
;
Vuiblet, Vincent
;
Hashmi, Seema
;
Wilcken, Rainer
;
Bernier, Francois P.
;
Innes, A. Micheil
;
Parboosingh, Jillian S.
;
Lamont, Ryan E.
;
Midgley, Julian P.
;
Wright, Nicola
;
Majewski, Jacek
;
Zenker, Martin
;
Schaefer, Franz
;
Kuss, Navina
;
Greil, Johann
;
Giese, Thomas
;
Schwarz, Klaus
;
Catheline, Vilain
;
Schanze, Denny
;
Franke, Ingolf
;
Sznajer, Yves
;
Truant, Anne S.
;
Adams, Brigitte
;
Desir, Julie
.
JOURNAL OF CLINICAL INVESTIGATION,
2017, 127 (03)
:912-928

Lovric, 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 USA

Goncalves, 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:
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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 USA

Srinivas, 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 USA

Choi, 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 USA

Shril, 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 USA

Ashraf, 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 USA

Tan, 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 USA

Rao, 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 USA

Airik, 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 USA

Schapiro, 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 USA

Braun, 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 USA

Sadowski, 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 USA

Widmeier, 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 USA

Jobst-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 USA

Schmidt, 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 USA

Girik, 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 USA

Capitani, 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 USA

Suh, 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 USA

Lachaussee, 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

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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

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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 USA

Boyer, 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 USA

Schmitt, 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 USA

Vuiblet, 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 USA

Hashmi, 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 USA

Wilcken, 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 USA

Bernier, 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 USA

Innes, 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 USA

Parboosingh, 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 USA

Lamont, 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 USA

Midgley, 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 USA

Wright, 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 USA

Majewski, 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 USA

Zenker, 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

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Kuss, Navina
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Heidelberg Univ, Ctr Pediat & Adolescent Med, Dept Neonatol, Heidelberg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Greil, Johann
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Heidelberg Univ, Ctr Pediat & Adolescent Med, Dept Pediat Hematol & Oncol, Heidelberg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

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Schwarz, Klaus
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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 USA

Catheline, Vilain
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Univ Libre Bruxelles, ULB Ctr Human Genet, Hop Erasme, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Schanze, Denny
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Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Franke, Ingolf
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Univ Hosp Magdeburg, Dept Dermatol, Magdeburg, Germany Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Sznajer, Yves
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Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Truant, Anne S.
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Catholic Univ Louvain, Ctr Human Genet, Pediat Neonatol, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Adams, Brigitte
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Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola HUDERF, Nephrol Ped, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA

Desir, Julie
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Univ Libre Bruxelles, ULB Ctr Human Genet, Hop Erasme, Brussels, Belgium Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA
[9]
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
[J].
Prasad, Rathi
;
Hadjidemetriou, Irene
;
Maharaj, Avinaash
;
Meimaridou, Eirini
;
Buonocore, Federica
;
Saleem, Moin
;
Hurcombe, Jenny
;
Bierzynska, Agnieszka
;
Barbagelata, Eliana
;
Bergada, Ignacio
;
Cassinelli, Hamilton
;
Das, Urmi
;
Krone, Ruth
;
Hacihamdioglu, Bulent
;
Sari, Erkan
;
Yesilkaya, Ediz
;
Storr, Helen L.
;
Clemente, Maria
;
Fernandez-Cancio, Monica
;
Camats, Nuria
;
Ram, Nanik
;
Achermann, John C.
;
Van Veldhoven, Paul P.
;
Guasti, Leonardo
;
Braslavsky, Debora
;
Guran, Tulay
;
Metherell, Louise A.
.
JOURNAL OF CLINICAL INVESTIGATION,
2017, 127 (03)
:942-953

Prasad, Rathi
论文数: 0 引用数: 0
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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

Hadjidemetriou, Irene
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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

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Meimaridou, Eirini
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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

Buonocore, 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, England

Saleem, Moin
论文数: 0 引用数: 0
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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, England

Hurcombe, 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, England

Bierzynska, Agnieszka
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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, England

Barbagelata, Eliana
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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, England

Bergada, Ignacio
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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, England

Cassinelli, Hamilton
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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, England

Das, Urmi
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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, England

Krone, Ruth
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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, England

Hacihamdioglu, Bulent
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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, England

Sari, Erkan
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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, England

Yesilkaya, Ediz
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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, England

Storr, Helen L.
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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

Clemente, Maria
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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, England

Fernandez-Cancio, Monica
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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, England

Camats, 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, England

Ram, 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, England

Achermann, 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, England

Van 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, England

Guasti, 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, England

Braslavsky, 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, England

Guran, 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, England

Metherell, 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