نتایج جستجو برای: hydroxylase deficiency

تعداد نتایج: 152075  

Journal: :Internal medicine 2009
Rui Imamine Hiroshi Arima Miho Kusakabe Hiroshi Umeda Ikuko Sato Keiko Homma Takeshi Usui Yutaka Oiso

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...

Journal: :iranian journal of basic medical sciences 0
aydan caglayan hacettepe university, faculty of pharmacy, department of toxicology, ankara 06100 turkey belma kocer-gumusel hacettepe university, faculty of pharmacy, department of toxicology, ankara 06100 turkey pinar erkekoglu hacettepe university, faculty of pharmacy, department of toxicology, ankara 06100 turkey filiz hincal hacettepe university, faculty of pharmacy, department of toxicology, ankara 06100 turkey

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...

Journal: :Lancet 2004
Wiebke Arlt Elizabeth A Walker Nicole Draper Hannah E Ivison Jon P Ride Fabian Hammer Susan M Chalder Maria Borucka-Mankiewicz Berthold P Hauffa Ewa M Malunowicz Paul M Stewart Cedric H L Shackleton

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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