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Stiff man syndrome: Clinical and laboratory findings in eight patients

✍ Scribed by H. -M. Meinck; K. Ricker; P. -J. Hülser; E. Schmid; J. Peiffer; M. Solimena

Publisher
Springer
Year
1993
Tongue
English
Weight
986 KB
Volume
241
Category
Article
ISSN
0340-5354

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GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtaine