Four novel mutations in patients from th
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T. Georgiou; A. Drousiotou; Y. Campos; A. Caciotti; L. Sztriha; A. Gururaj; P. O
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Article
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2004
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John Wiley and Sons
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English
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GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the