نتایج جستجو برای: ژن cyp21a2
تعداد نتایج: 16028 فیلتر نتایج به سال:
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys. Elevated adrenal androgens lead to accelerated growth and bone maturation. Traditional treatment of CAH consists of the suppression of ACTH through glucocorticoid replacement, in ...
plasma) (15 ), of vitamin E (carried in lipoproteins together with cholesterol) and other antioxidants (16 ), and in sepsis, with reduced antioxidant protection by sulfur amino acids (17 ). In sepsis, it is also related to impaired energy and amino acid disposal, which is partly reversed by increasing the amino acid supply (2, 18). Recent studies also suggest that cholesterol becomes an essenti...
Steroid 21-hydroxylase deficiency is a major cause of congenital adrenal hyperplasia and is caused by genetic impairment of this enzyme. Since approximately 80% of cases are caused by point mutations of the CYP21B (CYP21A2) gene, whereas the remaining 20% are due to deletion of this gene, we used the polymerase chain reaction single strand conformation polymorphism technique for rapid and accur...
Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...
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