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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Review Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980/ https://www.ncbi.nlm.nih.gov/pubmed/30242902 http://dx.doi.org/10.1111/apa.14587

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