A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency. Other variable endocrine manifestations are described. In this study, we aimed to co...

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Detalles Bibliográficos
Autores principales: Maharaj, Avinaash, Kwong, Ruth, Williams, Jack, Smith, Christopher, Storr, Helen, Krone, Ruth, Braslavsky, Debora, Clemente, Maria, Ram, Nanik, Banerjee, Indraneel, Çetinkaya, Semra, Buonocore, Federica, Güran, Tülay, Achermann, John C, Metherell, Louise, Prasad, Rathi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9346324/
https://www.ncbi.nlm.nih.gov/pubmed/35904228
http://dx.doi.org/10.1530/EC-22-0250

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