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Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

✍ Scribed by Fernanda Sperb; Filippo Vairo; Maira Burin; Fabiana Quoos Mayer; Ursula Matte; Roberto Giugliani

Book ID
119241452
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
183 KB
Volume
512
Category
Article
ISSN
0378-1119

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## Sly GM1-gangliosidosis is a lysosomal storage disease caused by a deficiency of acid b-galactosidase. Three clinical forms are recognized-infantile, juvenile, and adult-based on age of onset and severity of the symptoms. We have performed molecular analysis of a large cohort of GM1 patients (19