Associated Papers
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.
Santos JI et al.
Life (basel, Switzerland), 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 2022
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
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
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F et al.
Human Mutation, 2011
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
Kasper DC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).
Tylki-Szymanska A et al.
Molecular Genetics and Metabolism, 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
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
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