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

[21] Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiency
Gulin Sunter
Ece Oge Enver
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Pinar Vatansever
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Goncagul Haklar
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Tulay Guran
BMC Neurology, 18
[22] Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiency
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Enver, Ece Oge
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[23] Sphingosine-1-phosphate lyase deficiency associated with adrenal insufficiency and nephrotic Syndrome: two siblings with the same mutation and different clinical course
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[24] MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome
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[25] A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
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[26] Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review
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[27] TREATMENT WITH THI, AN INHIBITOR OF SPHINGOSINE-1-PHOSPHATE LYASE (SGPL1), MODULATES GLYCOSPHINGOLIPID METABOLISM AND RESULTS THERAPEUTICALLY EFFECTIVE IN A MOUSE MODEL OF HUNTINGTON'S DISEASE
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[28] Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome
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[29] Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic Syndrome
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[30] Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
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