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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Detalles Bibliográficos
Autores principales: Maharaj, Avinaash, Theodorou, Demetria, Banerjee, Indraneel (Indi), Metherell, Louise A., Prasad, Rathi, Wallace, Dean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156639/
https://www.ncbi.nlm.nih.gov/pubmed/32322566
http://dx.doi.org/10.3389/fped.2020.00151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156639/
https://www.ncbi.nlm.nih.gov/pubmed/32322566
http://dx.doi.org/10.3389/fped.2020.00151

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