The prevalence of various clinical forms of the disease and variants of CYP21A2 gene mutations in congenital adrenal cortical dysfunction in children and adolescents in the Republic of Tatarstan
Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect the desease promtly and start an immediate therapy in ord...
Main Authors: | , , , |
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Format: | Article |
Language: | Russian |
Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2019-11-01
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Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
Subjects: | |
Online Access: | https://www.ped-perinatology.ru/jour/article/view/986 |