SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

CONTEXT: Multiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystem...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Endocrinol Metab
Prif Awduron: Settas, Nikolaos, Persky, Rebecca, Faucz, Fabio R, Sheanon, Nicole, Voutetakis, Antonis, Lodish, Maya, Metherell, Louise A, Stratakis, Constantine A
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Endocrine Society 2018
Pynciau:
Clinical Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6435096/
https://ncbi.nlm.nih.gov/pubmed/30517686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-02238
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