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Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction

Steroid hormones are essential for the survival of all mammals. In adrenal glands and gonads, cytochrome P450 side chain cleavage enzyme (SCC or CYP11A1), catalyzes conversion of cholesterol to pregnenolone. We studied a patient with ambiguous genitalia by the absence of Müllerian ducts and the pres...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Endocrinol Diabetes Metab Case Rep
Prif Awduron: Bose, Himangshu S, Rice, Alan M, Marshall, Brendan, Gebrail, Fadi, Kupshik, David, Perry, Elizabeth W
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Bioscientifica Ltd 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6499912/
https://ncbi.nlm.nih.gov/pubmed/31051467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-19-0009
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