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 stu...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2020-02-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/pdf/gmb/v43n1/1415-4757-GMB-43-1-e20180347.pdf |