Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease....
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
SciELO
2016-04-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
Online Access: | https://doi.org/10.1177/2326409816643098 |