Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
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.
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
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
Martins AM et al.
Bmc Endocrine Disorders, 2018
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
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
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
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
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
Oussoren E et al.
Molecular Genetics and Metabolism, 2013
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
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
de Ru MH et al.
Journal of Inherited Metabolic Disease, 2013
Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation.
Cox-Brinkman J et al.
Ultrastructural Pathology, 2010
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
Sugawara K et al.
Journal of Human Genetics, 2008
Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy.
Cox-Brinkman J et al.
Journal of Inherited Metabolic Disease, 2007
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
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Matte U et al.
Molecular Genetics and Metabolism, 2003
Unique frequency of known mutations in Brazilian MPS I patients.
Matte U et al.
American Journal of Medical Genetics, 2000
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
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Bunge S et al.
Human Mutation, 1995
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