A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency. Other variable endocrine manifestations are described. In this study, we aimed to co...

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Bibliographic Details
Main Authors: Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, Rathi Prasad
Format: Article
Language:English
Published: Bioscientifica 2022-07-01
Series:Endocrine Connections
Subjects:
sphingosine-1-phosphate lyase
sgpl1
sphingolipids
primary adrenal insufficiency
primary gonadal insufficiency
primary hypothyroidism
Online Access:https://ec.bioscientifica.com/view/journals/ec/11/8/EC-22-0250.xml

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https://ec.bioscientifica.com/view/journals/ec/11/8/EC-22-0250.xml

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