SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure

被引：0

作者：

Maharaj, Avinaash ^{[1
]}

Wallace, Dean ^{[2
]}

Banerjee, Indi ^{[3
]}

Prasad, Rathi ^{[1
]}

Metherell, Lou ^{[1
]}

机构：

[1] Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England

[2] Royal Manchester Childrens Hosp, Dept Paediat Nephrol, Manchester, Lancs, England

[3] Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchester, Lancs, England

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90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：

P1-P191

引用

页码：477 / 478

页数：2

共 30 条

[1] Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1
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[2] SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency
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[3] Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome
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[4] Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications
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[5] Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome
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[6] ADRENAL INSUFFICIENCY IN AN INFANT WITH CONGENITAL NEPHROTIC SYNDROME: NEPHROTIC SYNDROME-14
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[7] Primary adrenal insufficiency misdiagnosed as hypothyroidism in a patient with polyglandular syndrome
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[8] Rapid Development of Anterotibial Compartment Syndrome and Rhabdomyolysis in a Patient with Primary Hypothyroidism and Adrenal Insufficiency
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[9] Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) as a cause of primary adrenal insufficiency and primary hypogonadism
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[10] A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults
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