Associated Papers
Mucopolysaccharidosis Type I in Mexico: Case-Based Review.
Cantú-Reyna C et al.
Children (basel, Switzerland), 2023
c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I et al.
The Protein Journal, 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
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Cobos PN et al.
Jimd Reports, 2015
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