A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services’ Recommended Uniform Screen...

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Detalles Bibliográficos
Autores principales: Jalal, Kabir, Carter, Randy L., Barczykowski, Amy, Tomatsu, Shunji, Langan, Thomas J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9680456/
https://www.ncbi.nlm.nih.gov/pubmed/36412587
http://dx.doi.org/10.3390/ijns8040061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9680456/
https://www.ncbi.nlm.nih.gov/pubmed/36412587
http://dx.doi.org/10.3390/ijns8040061

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