نتایج جستجو برای: ژن cyp21a2

تعداد نتایج: 16028  

Journal: :Indian pediatrics 2015
Ramaswamy Ganesh Natarajan Suresh Lalitha Janakiraman Karnam Ravikumar

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2008
Fernanda Caroline Soardi Sofia Helena V Lemos-Marini Fernanda Borchers Coeli Víctor Gonçalves Maturana Márcia Duarte Barbosa da Silva Renan Darin Bernardi Giselle Zenker Justo Maricilda Palandi de-Mello

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 the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weigh...

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