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Impact of β-galactosidase mutations on the expression of the canine lysosomal multienzyme complex

✍ Scribed by Robert Kreutzer; Mihaela Kreutzer; Adrian C. Sewell; Somporn Techangamsuwan; Tosso Leeb; Wolfgang Baumgärtner


Book ID
116270792
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
407 KB
Volume
1792
Category
Article
ISSN
0925-4439

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GM1 gangliosidosis and Morquio B disease
✍ Doris Hofer; Karl Paul; Katrin Fantur; Michael Beck; Friederike Bürger; Catherin 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB

Alterations in GLB1, the gene coding for acid b-D-galactosidase (b-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function. While most MBD patients carry a common