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Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH), screened for in neonates, is the second most common endocrinopathy after congenital hypothyroidism.Newborn screening for CAH due to CYP21A2 deficiency is performed by immunologic assay for 17-hydroxyprogesterone (17-OHP). The second-tier test for confirmation of...

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Detalles Bibliográficos
Autores principales: Tippabathani, Jayakrishna, Seenappa, Venu, Murugan, Alagupandian, Phani, Nagaraja Mahishi, Hampe, Mahesh H., Appaswamy, Giridharan, Sadashiv Gambhir, Prakash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10053538/
https://www.ncbi.nlm.nih.gov/pubmed/36975848
http://dx.doi.org/10.3390/ijns9010009