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Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices

Lauren O Grady1, Emilie S Zoltick2, Hana Zouk3

  • 1Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.

American Journal of Medical Genetics. Part A
|November 19, 2024
PubMed

Keywords:
IDUAbiobanksinherited metabolic diseasemucopolysaccharidosis type Inewborn screeningpseudodeficiency alleles

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