International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

AIM: Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. MET...

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Detalhes bibliográficos
Publicado no:Acta Paediatr
Main Authors: Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Review Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6282980/
https://ncbi.nlm.nih.gov/pubmed/30242902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/apa.14587
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