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Type 1 Gaucher Disease: Molecular, Biochemical, and Clinical Characterization of Patients from Northern Portugal

✍ Scribed by O. Amaral; L. Lacerda; R. Santos; R.A. Pinto; H. Aerts; M.C.S. Miranda


Book ID
112237885
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
564 KB
Volume
49
Category
Article
ISSN
0885-4505

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Identification and functional characteri
✍ SnjeΕΎana MiočiΔ‡; Mirella Filocamo; Silvia Dominissini; Anna Lisa E. Montalvo; Kr πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 834 KB

## Communicated by Andreas Gal Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to an autosomal recessive deficiency of acid Ξ²-glucosidase characterized by the accumulation of glucocerebroside. In this work we carried out the molecular analysis of the glucocerebro