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: | 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 |
Similar Items
-
GM1 Gangliosidosis—A Mini-Review
by: Elena-Raluca Nicoli, et al.
Published: (2021-09-01) -
Progressive dystonia as a presenting manifestation of GM1 gangliosidosis
by: Sahil Mehta, et al.
Published: (2019-01-01) -
GM1 gangliosidosis : therapy and pathogenesis
by: Elliot-Smith, Elena
Published: (2005) -
GM1 Gangliosidosis: Mechanisms and Management
by: Rha AK, et al.
Published: (2021-04-01) -
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
by: Ahmed Bouhouche, et al.
Published: (2018-01-01)