نتایج جستجو برای: hydroxylase deficiency
تعداد نتایج: 152075 فیلتر نتایج به سال:
We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I17...
objective(s): particularly in developing countries, selenium and/or iodine deficiencies are encountered and use of pesticides in agriculture are not well-controlled. fenvalerate is a pyrethroid insectide used in agriculture and has applications against a wide range of pests. this study was designed to evaluate the effects of fenvalerate on hepatic and cerebral xenobiotic metabolizing enzyme act...
BACKGROUND Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17alpha-hydroxylase and 21-hydroxylase. However, no mutations have been reported in the CYP17 and CYP21 genes, which encode these P450 enzymes. Affected girls are born with ambiguous genitalia, but their circulati...
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