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    Article

    Design and applications of gene therapy vectors for mucopolysaccharidosis in Colombia

    The authors briefly describe their work in the construction of viral derived vectors for the use in gene therapy of muchopolysaccharide storage diseases (MPS), especially in Morquio A syndrome. The motivations...

    Carlos J. Alméciga-Diaz, Luis A. Barrera in Gene Therapy (2020)

  2. Article

    Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate

    Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and ...

    Shunji Tomatsu, Tatiana Dieter, Ida V. Schwartz in Journal of Human Genetics (2004)