5 Result(s)
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Article
Luis A. Barrera
Human Genetics
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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...
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Article
Open AccessNeural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of ...
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Article
Open AccessResearch, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the train...
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Article
Open AccessCellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types
We present a sensitive approach to predict genes expressed selectively in specific cell types, by searching publicly available expression data for genes with a similar expression profile to known cell-specific...
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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 ...
