Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 years of experience with laboratory and clinical mana...

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Detalles Bibliográficos
Autores principales: Gragnaniello, Vincenza, Gueraldi, Daniela, Rubert, Laura, Manzoni, Francesca, Cazzorla, Chiara, Giuliani, Antonella, Polo, Giulia, Salviati, Leonardo, Burlina, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712507/
https://www.ncbi.nlm.nih.gov/pubmed/33147872
http://dx.doi.org/10.3390/ijns6040085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712507/
https://www.ncbi.nlm.nih.gov/pubmed/33147872
http://dx.doi.org/10.3390/ijns6040085

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