Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II

Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a lysosomal storage disorder (LSD) caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). MPS II satisfies all criteria defined by the Advisory Committee on Heritable Disorders in Newborns and Children (AC...

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Detalles Bibliográficos
Autores principales: Bilyeu, Heather, Washburn, Jon, Vermette, Lacey, Klug, Tracy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711921/
https://www.ncbi.nlm.nih.gov/pubmed/33124617
http://dx.doi.org/10.3390/ijns6040079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711921/
https://www.ncbi.nlm.nih.gov/pubmed/33124617
http://dx.doi.org/10.3390/ijns6040079

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