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pro vyhledávání: '"Demetria Theodorou"'
Autor:
Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
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
Externí odkaz:
https://doaj.org/article/67e3de037d144841a33ef8cbcf0f167b
