Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.
Al Zaabi NN et al.
Clinical Case Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I et al.
The Protein Journal, 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
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
Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I.
Sugiura K et al.
Molecular Genetics and Metabolism Reports, 2020
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.
Gonzalez EA et al.
Clinical & Experimental Ophthalmology, 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 novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
Li Y et al.
Journal of Genetics, 2019
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations.
Kamranjam M et al.
Genetic Testing and Molecular Biomarkers, 2019
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I.
Suga M et al.
Stem Cell Research, 2019
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Giugliani R et al.
Orphanet Journal of Rare Diseases, 2018
Worldwide distribution of common IDUA pathogenic variants.
Poletto E et al.
Clinical Genetics, 2018
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L et al.
Annals of Human Genetics, 2018
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
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
Hinderer C et al.
Human Molecular Genetics, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 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
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
[Laboratory diagnosis and follow up of mucopolysaccharidoses].
Froissart R et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
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
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Kingma SD et al.
Orphanet Journal of Rare Diseases, 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
[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
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Sun L et al.
Genetics and Molecular Biology, 2011
Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.
Furukawa Y et al.
Journal of the Neurological Sciences, 2011
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R et al.
Genetics and Molecular Biology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
Rheumatologic aspects of lysosomal storage diseases.
Manger B et al.
Clinical Rheumatology, 2007
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.
Vijay S et al.
Acta Paediatrica (oslo, Norway : 1992), 2005
A homology model for human alpha-l-iduronidase: insights into human disease.
Rempel BP et al.
Molecular Genetics and Metabolism, 2005
Prediction of neuropathology in mucopolysaccharidosis I patients.
Fuller M et al.
Molecular Genetics and Metabolism, 2005
Laronidase treatment of mucopolysaccharidosis I.
Wraith EJ et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2005
Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations.
Lee IJ et al.
Clinical Genetics, 2004
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
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