Molecular genetics and metabolismHumansFollow-Up StudiesMaleFemaleInfant
Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus.
Barbara K Burton, N Matthew Ellinwood, Katey K Hoffman, Joseph Muenzer
Published: 202510.1016/j.ymgme.2025.109285
Abstract
Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X-linked lysosomal storage disease caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S, EC 3.1.6.13), due to pathological variants of the I2S gene (IDS). Cli…
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