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

[31] SMARCAL1 mutations: A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome
Živičnjak M.
Franke D.
Zenker M.
Hoyer J.
Lücke T.
Pape L.
Ehrich J.H.H.
Pediatric Research, 2009, 65 (5) : 564 - 568
[32] SMARCAL1 Mutations: A Cause of Prepubertal Idiopathic Steroid-resistant Nephrotic Syndrome
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Franke, Doris
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[33] Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9
Bettina Mucha
Fatih Ozaltin
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Katrin Hasselbacher
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Bernd Hoppe
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Pediatric Research, 2006, 59 : 325 - 331
[34] Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
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Ruf, RG
Schultheiss, M
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PEDIATRIC RESEARCH, 2006, 59 (02) : 325 - 331
[35] Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome
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[36] HIGH PREVALENCE OF WT1 GENE MUTATIONS IN PATIENTS WITH STEROID-RESISTANT NEPHROTIC SYNDROME
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[37] Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome
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[38] Novel mutation in Wilms' tumour 1 gene associated with steroid-resistant nephrotic syndrome
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[39] SPHINGOSINE-1-PHOSPHATE LYASE INSUFFICIENCY SYNDROME DETECTED BY LOW T-CELL RECEPTOR EXCISION CIRCLES TREATED WITH VITAMIN B6
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[40] A Novel Peroxisomal Cause of Primary Adrenal Insufficiency: Pseudo-neonatal Adrenoleukodystrophy Due to ACOX1 Mutations
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