A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome, and primary adrenal insufficiency (PAI) in the majority of cases. SGPL1 encodes sphingosine-1-phosphate lyase (SGPL1) which is a...

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Principais autores:	Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2020-04-01
סדרה:	Frontiers in Pediatrics
נושאים:	SGPL1 sphingosine-1-phosphate lyase congenital nephrotic syndrome primary adrenal insufficiency multiple endocrinopathy
גישה מקוונת:	https://www.frontiersin.org/article/10.3389/fped.2020.00151/full
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