Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1)....

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Detalles Bibliográficos
Autores principales: Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L., Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C., Van Veldhoven, Paul P., Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay, Metherell, Louise A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330744/
https://www.ncbi.nlm.nih.gov/pubmed/28165343
http://dx.doi.org/10.1172/JCI90171

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