Original paper
Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center
Abstract
Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides. For the accurate diagnosis of the disease, the quantification of a specific enzymatic activity is needed. In the present study, we analyzed seven MPS over several periods of time ranging from 2 to 5 years in a reference center in Mexico. During this time, a total of 761 samples...
Paper Details
Title
Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center
Published Date
Jan 1, 2020
Volume
43
Issue
1
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