Associated Papers
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Viall S et al.
Molecular Genetics and Metabolism Reports, 2025
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R et al.
Frontiers in Genetics, 2024
38711914 (PubMed )
Supplement: Table2.DOCX
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2023
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
Gragnaniello V et al.
Biomolecules, 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
34746235 (PubMed )
Supplement: DataSheet1.xlsx › Suppl1
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
Saito S et al.
Molecular Genetics and Metabolism, 2014
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Sun L et al.
Genetics and Molecular Biology, 2011
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