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Mucopolysaccharidosis II, IV-A and VI: First Colombian Neuropsychological Characterization Authors
ISSN: 2371 - 1655
Publisher: author
Mucopolysaccharidosis II, IV-A and VI: First Colombian Neuropsychological Characterization Authors
Indexed in
Medical Sciences
ARTICLE-FACTOR
1.3
Article Basics Score: 2
Article Transparency Score: 2
Article Operation Score: 3
Article Articles Score: 2
Article Accessibility Score: 2
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International Category Code (ICC):
ICC-1702
Publisher: Lifescience Global Inc.
International Journal Address (IAA):
IAA.ZONE/2371109851655
eISSN
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2371 - 1655
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Abstract
The Mucopolysaccharidosis [MPS] are a group of orphan or rare genetic diseases characterized by lysosomal storage disorders which are recognized by bone malformations and neuropsychological implications that have not been studied so far. For this reason, the first cross-sectional descriptive study of neuropsychological nature was conducted on variants of the disease, Hunter Syndrome [MPS II], Morquio A Syndrome [MPS IV A] and Maroteaux-Lamy syndrome [MPS VI] in 21 children and adolescents aged 3 to 19 years old, at the Colombian Association of Patients with Lysosomal Storage Diseases [ACOPEL, for its Spanish acronym] in Bogotá, Colombia. Results indicate that for the different types of MPS tested is not easy to make a neuropsychological characterization and generalize these results to other populations. However, MPS type II shows moderate to severe cognitive deficit with a compromise in psychomotor development. Morquio A presents aver...
