๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

1. Intelligent Building Middle East


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
27 KB
Volume
28
Category
Article
ISSN
0171-5445

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Four novel mutations in patients from th
โœ T. Georgiou; A. Drousiotou; Y. Campos; A. Caciotti; L. Sztriha; A. Gururaj; P. O ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 253 KB

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