Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools
Author:
Publisher
MDPI AG
Subject
Obstetrics and Gynaecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology, and Child Health
Link
http://www.mdpi.com/2409-515X/4/3/23/pdf
Reference56 articles.
1. Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
2. Newborn screening for Krabbe disease in New York State: the first eight years’ experience
3. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper
4. Glycosaminoglycans detection methods: Applications of mass spectrometry
5. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
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3. Pilot study of newborn screening for six lysosomal diseases in Brazil;Molecular Genetics and Metabolism;2023-09
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