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Early disease progression of Hurler syndrome

BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated...

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Detalles Bibliográficos
Autores principales: Kiely, Bridget T., Kohler, Jennifer L., Coletti, Hannah Y., Poe, Michele D., Escolar, Maria L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307824/
https://www.ncbi.nlm.nih.gov/pubmed/28193245
http://dx.doi.org/10.1186/s13023-017-0583-7