Associated Papers
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
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Pérez-López J et al.
Molecular Genetics and Metabolism, 2017
Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man.
Lin HY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015
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
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Bie H et al.
Nature Chemical Biology, 2013
24036510 (PubMed )
Supplement: NIHMS3970-supplement-1.pdf
Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up.
Jurecka A et al.
Pediatric Neurology, 2012
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F et al.
Human Mutation, 2011
Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).
Tylki-Szymanska A et al.
Molecular Genetics and Metabolism, 2010
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