Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies
por: Wai Kwong, Ruth Ming, et al.
Publicado: (2021) -
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
por: Maharaj, Avinaash, et al.
Publicado: (2022) -
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
por: Maharaj, Avinaash, et al.
Publicado: (2022) -
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
por: Prasad, Rathi, et al.
Publicado: (2017) -
Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
por: Maharaj, A., et al.
Publicado: (2020)