Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

被引：0

作者：

Prasad, Rathi ^{[1
]}

Maharaj, Avinaash ^{[1
]}

Meimaridou, Eirini ^{[1
]}

VanVeldhoven, Paul ^{[2
]}

Buonocore, Federica ^{[3
]}

Barbagaleta, Eliana ^{[4
]}

Bergada, Ignacio ^{[5
]}

Cassinelli, Hamilton ^{[5
]}

Das, Urmi ^{[6
]}

Krone, Ruth ^{[7
]}

Saleem, Moin ^{[8
]}

Hacihamdioglu, Bulent ^{[9
]}

Sari, Erkan ^{[10
]}

Storr, Helen ^{[1
]}

Achermann, John ^{[3
]}

Guasti, Leonardo ^{[1
]}

Braslavsky, Debora ^{[5
]}

Guran, Tulay ^{[11
]}

Ram, Nanik ^{[12
]}

Metherell, Lou ^{[1
]}

机构：

[1] Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

[2] KULeuven, LIPIT, Leuven, Belgium

[3] UCL, Dept Genet & Genom Med, Inst Child Hlth, London, England

[4] Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina

[5] Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol, CEDIE, Dr Cesar Bergada,CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina

[6] Alder Hey Childrens Hosp, Dept Paediat Endocrinol, Liverpool, Merseyside, England

[7] Birmingham Childrens Hosp, Dept Paediat Endocrinol, Birmingham, W Midlands, England

[8] Bristol Royal Hosp Children, Bristol Childrens Renal Unit, Bristol, Avon, England

[9] Hlth Sci Univ, Suleymaniye Matern & Childrens Training & Res Hos, Dept Pediat Endocrinol & Diabet, Istanbul, Turkey

[10] Gulhane Mil Med Acad, Dept Pediat Endocrinol & Diabet, Ankara, Turkey

[11] Marmara Univ, Dept Pediat Endocrinol & Diabet, Pend Educ & Res Hosp, Istanbul, Turkey

[12] Aga Khan Univ Hosp, Dept Med, Sect Endocrinol, Karachi, Pakistan

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 86卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

FC15.2

引用

页码：65 / 66

页数：2

共 45 条

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[45] Investigation of the Pathogenicity of a Novel Missense Variant in the ARHGAP24 gene by Quantitative Analysis of the Active Rac1 Protein: A Case of Pediatric Steroid-Resistant Nephrotic Syndrome
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