Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

INTRODUCTION: Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is a multisystemic disorder which, in the main, incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency (PAI). CASE PRESENTATION: We present a young girl with a novel homozygous variant in...

Descripción completa

Detalles Bibliográficos
Autores principales: Maharaj, Avinaash, Güran, Tülay, Buonocore, Federica, Achermann, John C, Metherell, Louise, Prasad, Rathi, Çetinkaya, Semra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926068/
https://www.ncbi.nlm.nih.gov/pubmed/35308304
http://dx.doi.org/10.1210/jendso/bvac020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926068/
https://www.ncbi.nlm.nih.gov/pubmed/35308304
http://dx.doi.org/10.1210/jendso/bvac020

Ejemplares similares