Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L et al.
Virchows Archiv : an International Journal of Pathology, 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
c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I et al.
The Protein Journal, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 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
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
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
A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
Li Y et al.
Journal of Genetics, 2019
An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene.
Tanwar H et al.
Journal of Cellular Biochemistry, 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
Open issues in Mucopolysaccharidosis type I-Hurler.
Parini R et al.
Orphanet Journal of Rare Diseases, 2017
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
Kwak MJ et al.
Bmc Medical Genetics, 2016
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
Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.
Kamei M et al.
Jimd Reports, 2014
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Pineda T et al.
Molecular Genetics and Metabolism Reports, 2014
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Bie H et al.
Nature Chemical Biology, 2013
Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients.
Mayer FQ et al.
Current Pharmaceutical Biotechnology, 2013
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
Wang X et al.
Clinical Genetics, 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
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].
WANG XN et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
[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
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R et al.
Genetics and Molecular Biology, 2010
Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic.
Murphy AM et al.
Archives of Disease in Childhood, 2009
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
Sugawara K et al.
Journal of Human Genetics, 2008
Rheumatologic aspects of lysosomal storage diseases.
Manger B et al.
Clinical Rheumatology, 2007
Prediction of neuropathology in mucopolysaccharidosis I patients.
Fuller M et al.
Molecular Genetics and Metabolism, 2005
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
Hein LK et al.
Biochimica Et Biophysica Acta, 2003
Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.
Brooks DA
Expert Opinion on Biological Therapy, 2002
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Bunge S et al.
Biochimica Et Biophysica Acta, 1998
Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis.
Durand P et al.
Glycobiology, 1997