Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Anna Tylki-SzymańskaLinda De MeirleirMaja Di RoccoWaseem M FathallaNathalie GuffonChristina LampeAllan M LundRossella PariniFrits A WijburgJiri ZemanMaurizio ScarpaPublished in: Acta paediatrica (Oslo, Norway : 1992) (2019)
The expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.