Long-term health outcomes of individuals with pseudodeficiency alleles in IDUA may inform newborn screening practices for mucopolysaccharidosis type I O'Grady L, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Green RC, Karaa Amel, Gold NB American Journal of Medical Genetics: Part A November 2024 Open .pdf
