Associated Papers
Functional assessment of IDUA variants of uncertain significance identified by newborn screening.
Yu SH et al.
Npj Genomic Medicine, 2024
Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.
Chkioua L et al.
Bmc Genomics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 2022
Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.
He P et al.
Molecular and Cellular Biochemistry, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
IDUA Gene Variants and Response to Zoledronic Acid Treatment in Chinese Women with Postmenopausal Osteoporosis.
Lin H et al.
Pharmacogenomics and Personalized Medicine, 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
A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.
Kamranjam M et al.
Journal of Pediatric Genetics, 2019
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
Zahoor MY et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
Azab B et al.
Molecular Genetics and Metabolism Reports, 2017
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
Atçeken N et al.
Turkish Journal of Medical Sciences, 2016
Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.
Niu T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Bie H et al.
Nature Chemical Biology, 2013
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
Lin SP et al.
Orphanet Journal of Rare Diseases, 2013
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Chkioua L et al.
Diagnostic Pathology, 2011
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
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Chkioua L et al.
Diagnostic Pathology, 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
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Sun L et al.
Genetics and Molecular Biology, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
Chkioua L et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2007
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
Laradi S et al.
Journal of Inherited Metabolic Disease, 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
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
Venturi N et al.
Human Mutation, 2002
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.
Lee-Chen GJ et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2002
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
Lee-Chen GJ et al.
Clinical Genetics, 1999
Human alpha-L-iduronidase (IDUA) gene: apparent recombination in intron 2 by haplotype analysis in a Taiwanese population.
Lee-Chen GJ et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1998
Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese population.
Lee-Chen GJ et al.
Proceedings of the National Science Council, Republic of China. Part B, Life Sciences, 1998
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
Lee-Chen GJ et al.
Journal of Medical Genetics, 1997
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
Bunge S et al.
Human Molecular Genetics, 1994
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Li P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0