Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome-Reference-Cited by-同舟云学术

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

Published:2017-02-06 Issue:3 Volume:127 Page:942-953
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

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.,

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference48 articles.

1. Adrenal insufficiency

2. Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency

3. Whole-exome sequencing in the differential diagnosis of primary adrenal insufficiency in children;Chan;Front Endocrinol (Lausanne),2015

4. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

5. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

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