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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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| Gepubliceerd in: | Endocrinol Diabetes Metab Case Rep |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Bioscientifica Ltd
2019
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| Onderwerpen: | |
| Online toegang: | 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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