53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
January 2025 in “Directory of Open access Books (OAPEN Foundation)” This book reviews the symptoms, diagnosis, and treatments for Polycystic Ovary Syndrome, providing a comprehensive exploration but reports no new clinical results.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
131 citations
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September 2017 in “Molecular and Cellular Endocrinology” This article discusses the role of androgens in metabolic and reproductive health and reports no new experimental results; the focus is on androgen receptor activation by testosterone and 5α-dihydrotestosterone.
29 citations
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December 2017 in “Molecular therapy” This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.