Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Pillai NR et al.
Molecular Genetics and Metabolism, 2023
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
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
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.
Kadali S et al.
Molecular and Cellular Biochemistry, 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
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
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
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
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Sun L et al.
Genetics and Molecular Biology, 2011
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Prediction of neuropathology in mucopolysaccharidosis I patients.
Fuller M et al.
Molecular Genetics and Metabolism, 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 genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
Voskoboeva EY et al.
Molecular Genetics and Metabolism, 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
A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).
Tieu PT et al.
Human Mutation, 1994