Buscar
Mostrando ítems 31-40 de 61
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01)
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by ...
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: Evidence of different genetic mechanisms involved in the production of the disease
(1998)
Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis caused by mutations in the steroid 21-hydroxylase gene (CYP21) in more than 90% of affected patients. The CYP21 gene is ...
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: Evidence of different genetic mechanisms involved in the production of the disease
(1998)
Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis caused by mutations in the steroid 21-hydroxylase gene (CYP21) in more than 90% of affected patients. The CYP21 gene is ...