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Secondary lipid accumulation in lysosomal disease

โœ Scribed by Steven U. Walkley; Marie T. Vanier

Book ID
113486248
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
818 KB
Volume
1793
Category
Article
ISSN
0167-4889

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๐Ÿ“œ SIMILAR VOLUMES

Mutations causing aspartylglucosaminuria
Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease
โœ Elina Ikonen; Leena Peltonen ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 466 KB

This article provides a review of the mutations reported so far in the lysosomal storage disease aspartylglucosaminuria ( AGU). The clinical symptoms, biochemical findings, and diagnostic possibilities of the disease are introduced. The prevalence and biological consequences of the found mutations a