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- W3006266433 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 belonging to 505 individuals with suspected MPS were analyzed. A total of 198 (26.01%) positive results were found. Among these, MPS IVA accounted for the highest frequency of positive results (49.10%), followed by MPS III (17.69%, IIIA: 11.80% and IIIB: 5.89%). Adjusting for the number of births per year, the estimated incidence per 100,000 births for MPS analyzed were as follows: MPS I: 0.19, MPS II: 0.15, MPS IIIA: 0.26, MPS IIIB: 0.13, MPS IVA: 1.10, MPS VI: 0.17 and MPS VII: 0.23, and the combined estimated incidence of MPS was 2.23 per 100,000 births; however, this incidence seems to be highly underestimated when compared with the results of newborn screenings." @default.
- W3006266433 created "2020-02-24" @default.
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- W3006266433 date "2020-01-01" @default.
- W3006266433 modified "2023-09-24" @default.
- W3006266433 title "Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center" @default.
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- W3006266433 doi "https://doi.org/10.1590/1678-4685-gmb-2018-0347" @default.
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