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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality. Infants with MPS II develop signs and symptoms of the disorder in the early years of life, yet diagnostic delays are very common...

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Detalles Bibliográficos
Autores principales: Burton, Barbara K., Hickey, Rachel, Hitchins, Lauren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569764/
https://www.ncbi.nlm.nih.gov/pubmed/33117908
http://dx.doi.org/10.3390/ijns6030073