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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Veröffentlicht in:Acta Paediatr
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
Schlagworte:
Review Articles
Online Zugang: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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