Associated Papers
Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
Connolly C et al.
International Journal of Neonatal Screening, 2025
Combining clinically benign IDUA variants in cis reduces enzymatic activity of the resulting enzyme within the pathogenic range.
Yu SH et al.
Molecular Genetics and Metabolism, 2025
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.
Grady LO et al.
American Journal of Medical Genetics. Part A, 2025
Functional assessment of IDUA variants of uncertain significance identified by newborn screening.
Yu SH et al.
Npj Genomic Medicine, 2024
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Newborn screening of mucopolysaccharidosis type I.
Burlina AB et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Kingma SDK et al.
Journal of Inherited Metabolic Disease, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Bosfield K et al.
American Journal of Medical Genetics. Part A, 2021
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
Borges P et al.
Frontiers in Molecular Biosciences, 2021
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Kubaski F et al.
International Journal of Neonatal Screening, 2020
A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.
Yu SH et al.
International Journal of Neonatal Screening, 2020
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2020
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Hall PL et al.
International Journal of Neonatal Screening, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck DS et al.
International Journal of Neonatal Screening, 2020
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA et al.
Clinical Genetics, 2019
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Burlina AB et al.
International Journal of Neonatal Screening, 2019
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Newborn screening in mucopolysaccharidoses.
Donati MA et al.
Italian Journal of Pediatrics, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Burton BK et al.
The Journal of Pediatrics, 2017
Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles.
Mashima R et al.
Molecular Genetics and Metabolism Reports, 2017