Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies

Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) was described in 2017 as a novel condition affecting sphingolipid metabolism. There is a multisystemic phenotype including nephrotic syndrome and primary adrenal insufficiency (PAI) and to a lesser extent ichthyosis, neurological disease a...

Descripción completa

Detalles Bibliográficos
Autores principales: Wai Kwong, Ruth Ming, Maharaj, Avinaash Vickram, Metherell, Louise, Prasad, Rathi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090628/
http://dx.doi.org/10.1210/jendso/bvab048.1351

Ejemplares similares

Ejemplares similares