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

Rossella PariniAlexander BroomfieldMaureen A ClearyLinda De MeirleirMaja Di RoccoWaseem M FathallaNathalie GuffonChristina LampeAllan M LundMaurizio ScarpaAnna Tylki-SzymańskaJiří Zeman

Published in: Acta paediatrica (Oslo, Norway : 1992) (2018)

Newborn screening for mucopolysaccharidosis type I offers the potential for early diagnosis and early pre-symptomatic treatment, but existing hurdles need to be overcome.

Keyphrases

replacement therapy
smoking cessation
combination therapy
gene expression
human health