Associated Papers
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
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
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
33073008 (PubMed )
Supplement: IJNS-06-00010-s001.zip › IJNS-702473-supplementary.xlsx › SUPP_TABLE
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA et al.
Clinical Genetics, 2019
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A et al.
Human Mutation, 2017
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
Kunin-Batson AS et al.
Jimd Reports, 2016
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
24036510 (PubMed )
Supplement: NIHMS3970-supplement-1.pdf
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
Sugawara K et al.
Journal of Human Genetics, 2008
A homology model for human alpha-l-iduronidase: insights into human disease.
Rempel BP et al.
Molecular Genetics and Metabolism, 2005
Select a paper to view details