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....

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Bibliographic Details
Main Authors: Marcella B. Baptista MSc, Daniel Z. Scherrer PhD, Luciana C. Bonadia PhD, Carlos E. Steiner MD, PhD
Format: Article
Language:English
Published: SciELO 2016-04-01
Series:Journal of Inborn Errors of Metabolism and Screening
Online Access:https://doi.org/10.1177/2326409816643098