Associated Papers
Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.
Machnikowska-Sokołowska M et al.
Metabolites, 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
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
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
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
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