Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Zhang W et al.
Italian Journal of Pediatrics, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.
Alsharhan H et al.
Frontiers in Pediatrics, 2024
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A et al.
Bone Marrow Transplantation, 2023
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
Pillai NR et al.
Genes, 2022
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
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
Lombardi S et al.
International Journal of Molecular Sciences, 2020
Mucopolysaccharidosis Type I.
Kubaski F et al.
Diagnostics (basel, Switzerland), 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck DS et al.
International Journal of Neonatal Screening, 2020
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA et al.
Clinical Genetics, 2019
Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
Taghikhani M et al.
Journal of Clinical Laboratory Analysis, 2019
Worldwide distribution of common IDUA pathogenic variants.
Poletto E et al.
Clinical Genetics, 2018
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 2018
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A et al.
Human Mutation, 2017
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
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.
Keeling KM
Diseases (basel, Switzerland), 2016
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
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
Atçeken N et al.
Turkish Journal of Medical Sciences, 2016
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Cobos PN et al.
Jimd Reports, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
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
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.
Wiseman DH et al.
Journal of Inherited Metabolic Disease, 2013
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.
Saif MA et al.
Haematologica, 2012
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.
Chkioua L et al.
Diagnostic Pathology, 2011
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Chkioua L et al.
Diagnostic Pathology, 2011
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
Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
Khedhiri S et al.
Pathologie-biologie, 2009
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
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
[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
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
Hein LK et al.
Journal of Molecular Biology, 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
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
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