Newborn screening for genetic disorders: Current status and prospects for the future
Author:
Affiliation:
1. Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research Shanghai Jiao Tong University School of Medicine Shanghai China
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ped4.12343
Reference67 articles.
1. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS
2. WilsonJMG JungnerG.Principles and practice of screening for disease.World Health Organization(Geneva). Accessed March 1 2022.https://apps.who.int/iris/bitstream/handle/10665/37650/WHO_PHP_34.pdf?sequence=17
3. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
4. Microdetermination of TSH in Dried Blood Spot
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