Cargando…
Current State of the Art of Newborn Screening for Lysosomal Storage Disorders
Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening—tandem mass spectrometry (MS/MS) and digital m...
Autores principales: | Millington, David S., Bali, Deeksha S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548896/ https://www.ncbi.nlm.nih.gov/pubmed/33072946 http://dx.doi.org/10.3390/ijns4030024 |
Ejemplares similares
-
Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs
por: Millington, David S., et al.
Publicado: (2017) -
Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
por: Gelb, Michael H., et al.
Publicado: (2018) -
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †
por: Sanders, Karen A., et al.
Publicado: (2020) -
Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry
por: Li, Ruotong, et al.
Publicado: (2022) -
Rapid and Modular Assembly of Click Substrates To
Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage
Disorders
por: Skrinjar, Philipp, et al.
Publicado: (2018)