Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Boujida N et al.
Radiology Case Reports, 2025
Mucopolysaccharidoses: A biochemical study under limited resources.
Bouzid F et al.
Molecular Genetics and Metabolism Reports, 2025
Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
Connolly C et al.
International Journal of Neonatal Screening, 2025
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.
Rebai M et al.
Molecular Genetics and Metabolism Reports, 2025
Combining clinically benign IDUA variants in cis reduces enzymatic activity of the resulting enzyme within the pathogenic range.
Yu SH et al.
Molecular Genetics and Metabolism, 2025
Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.
El Fissi H et al.
Molecular Genetics and Metabolism Reports, 2025
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
Agranier M et al.
Bmc Pregnancy and Childbirth, 2025
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
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment.
Diogo R et al.
Cureus, 2023
Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.
Asseri AA et al.
Diseases (basel, Switzerland), 2023
Mucopolysaccharidosis Type I in Mexico: Case-Based Review.
Cantú-Reyna C et al.
Children (basel, Switzerland), 2023
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
Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase.
Durán-Gutiérrez DP et al.
Bioinformation, 2023
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
De Ponti G et al.
International Journal of Molecular Sciences, 2022
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Newborn screening of mucopolysaccharidosis type I.
Burlina AB et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 2022
Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts.
Maccarana M et al.
Glycobiology, 2021
Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation.
Carbajal-Rodríguez LM et al.
Heliyon, 2021
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
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).
Guffon N et al.
Orphanet Journal of Rare Diseases, 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 Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.
Yu SH et al.
International Journal of Neonatal Screening, 2020
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2020
Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients.
Shukla P et al.
International Journal of Molecular Sciences, 2020
Mucopolysaccharidosis Type I.
Kubaski F et al.
Diagnostics (basel, Switzerland), 2020
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.
Brailova M et al.
Journal of Clinical Medicine, 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
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
Zahoor MY et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
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
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.
Ahmed A et al.
Molecular Genetics and Metabolism Reports, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
Jahic A et al.
Molecular Genetics & Genomic Medicine, 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
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Burlina AB et al.
International Journal of Neonatal Screening, 2019
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
Newborn screening in mucopolysaccharidoses.
Donati MA et al.
Italian Journal of Pediatrics, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
Martins AM et al.
Bmc Endocrine Disorders, 2018
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I.
van Doorn J et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2018
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).
Javed A et al.
Acta Ophthalmologica, 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