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Normal serum β-galactosidase in juvenile GM1 gangliosidosis

✍ Scribed by Nozomi Ishii; Akihiro Oshima; Hitoshi Sakuraba; Yukio Fukuyama; Yoshiyuki Suzuki

Book ID: 119173346
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 259 KB
Volume: 10
Category: Article
ISSN: 0887-8994
DOI: 10.1016/0887-8994(94)90129-5

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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