Associated Papers
Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.
Venezia M et al.
Biomedicines, 2025
Functional assessment of IDUA variants of uncertain significance identified by newborn screening.
Yu SH et al.
Npj Genomic Medicine, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
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
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Voskoboeva EY et al.
Frontiers in Molecular Biosciences, 2021
Mucopolysaccharidosis Type I.
Kubaski F et al.
Diagnostics (basel, Switzerland), 2020
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA et al.
Clinical Genetics, 2019
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.
Ahmed A et al.
Molecular Genetics and Metabolism Reports, 2019
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Worldwide distribution of common IDUA pathogenic variants.
Poletto E et al.
Clinical Genetics, 2018
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A et al.
Human Mutation, 2017
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
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
Ahmed A et al.
Molecular Genetics and Metabolism, 2014
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
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.
Villani GR et al.
Journal of Inherited Metabolic Disease, 2012
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
Kasper DC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A et al.
American Journal of Medical Genetics. Part A, 2009
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
Sugawara K et al.
Journal of Human Genetics, 2008
A homology model for human alpha-l-iduronidase: insights into human disease.
Rempel BP et al.
Molecular Genetics and Metabolism, 2005
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Yogalingam G et al.
Human Mutation, 2004
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Beesley CE et al.
Human Genetics, 2001
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Weber B et al.
Human Molecular Genetics, 1997