Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc-Reference-Cited by-同舟云学术

Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc

Published:2008-03-01 Issue:3 Volume:93 Page:696-702
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Kim Chan Jong¹,Lin Lin²,Huang Ningwu¹,Quigley Charmian A.³,AvRuskin Theodore W.⁴,Achermann John C.²,Miller Walter L.¹

Affiliation:

1. Department of Pediatrics (C.J.K., N.H., W.L.M.), University of California, San Francisco, California 94143

2. UCL Institute of Child Health (L.L., J.C.A.), University College London, London WC1N 1EH, United Kingdom

3. Lilly Research Laboratories (C.A.Q.), US Medical, Indianapolis, Indiana 46285

4. Division of Pediatric Endocrinology and Metabolism (T.W.A.), The Brookdale University Hospital and Medical Center, State University of New York, Brooklyn, New York 11212

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/93/3/696/9053655/jcem0696.pdf

Reference43 articles.

1. Molecular biology of steroid hormone synthesis.;Miller;Endocr Rev,1988

2. Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme.;Yang;Endocrinology,1993

3. Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1.;Hu;Mol Endocrinol,2002

4. Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenuberproduktion (adrenaler Pseudohermaphroditismus masculinus).;Prader;Helv Paed Acta,1955

5. Evidence for deficiency of 20α cholesterol hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia.;Degenhart;Acta Endocrinol (Copenh),1972

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