Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency-Reference-Cited by-同舟云学术

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Published:2017-06-20 Issue:1 Volume:43 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Bizzarri Carla^ORCID,Pisaneschi Elisa,Mucciolo Mafalda,Pedicelli Stefania,Galeazzi Daniela,Novelli Antonio,Cappa Marco

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-017-0371-y.pdf

Reference14 articles.

1. Miller WL. Congenital lipoid adrenal hyperplasia: the human gene knockout of the steroidogenic acute regulatory protein. J Mol Endocrinol. 1997;19:227–40.

2. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL. Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years. Clin Endocrinol. 1985;23:481–93.

3. Lin D, Sugawara T, Strauss JF III, Clark BJ, Stocco DM, Saenger P, et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science. 1995;267:1828–31.

4. Bose HS, Sugawara T, Strauss JF III, Miller WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996;335:1870–8.

5. Sugawara T, Lin D, Holt JA, Martin KO, Javitt NB, Miller WL, et al. Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. Biochemistry. 1995;34:12506–12.

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