Prenatal and Neonatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
Author:
Publisher
S. Karger AG
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference19 articles.
1. Consensus Statement on 21-Hydroxylase Deficiency from The Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology
2. Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia*
3. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
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1. Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up‐to‐date comprehensive review;Prenatal Diagnosis;2024-03-06
2. Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test;Hormone Research in Paediatrics;2022
3. Current perspective and scope of fetal therapy: part 2;The Journal of Maternal-Fetal & Neonatal Medicine;2020-11-01
4. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02
5. Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants;BMC Pediatrics;2017-01-17
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