Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substr...

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Detalles Bibliográficos
Autores principales: Peck, Dawn S., Lacey, Jean M., White, Amy L., Pino, Gisele, Studinski, April L., Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J. Austin, Murray, Brianna K., Jones, Kelly L., Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422968/
https://www.ncbi.nlm.nih.gov/pubmed/33073008
http://dx.doi.org/10.3390/ijns6010010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422968/
https://www.ncbi.nlm.nih.gov/pubmed/33073008
http://dx.doi.org/10.3390/ijns6010010

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