Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
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
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
Wang X et al.
Clinical Genetics, 2012
[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
Wang XN et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
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