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GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts

✍ Scribed by PINSKY, LEONARD; POWELL, ELIZABETH; CALLAHAN, JOHN


Book ID
109675286
Publisher
Nature Publishing Group
Year
1970
Tongue
English
Weight
324 KB
Volume
228
Category
Article
ISSN
0028-0836

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GM1-gangliosidosis: Accumulation of gang
✍ Yoshiyuki Suzuki; Norimasa Nakamura; Kazuko Fukuoka πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 270 KB

Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical ty

Dystonia and parkinsonism in GM1 type 3
✍ Emmanuel Roze; Eduard Paschke; Nathalie Lopez; Thomas Eck; Kunihiro Yoshida; Ann πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 84 KB

## Abstract GM1 gangliosidosis is due to β‐galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non‐Japanese patients. We describe four new patients and systematically analyze