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Gm1-gangliosidosis type I: In utero detection and fetal manifestations

✍ Scribed by Michael M. Kaback; Howard R. Sloan; Marguerite Sonneborn; Robert M. Herndon; Alan K. Percy


Book ID
118537646
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
938 KB
Volume
82
Category
Article
ISSN
1097-6833

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## 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

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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