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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...

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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

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