β-Galactosidase Deficiency in Colombia
β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS). We aim to document the β-galactosidase defi...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
SciELO
2015-05-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
Online Access: | https://doi.org/10.1177/2326409815586252 |