Gaucher disease (type 1): Physical and kinetic properties of liposomal and soluble ‘acid’ β-glucosidase

Physical and kinetic properties of β-glu

Physical and kinetic properties of β-glucosidase in Gaucher disease

✍ A. Karazeh; M. Carroll 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 535 KB

Type 1 Gaucher disease presenting with e

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation

✍ Wasserstein, Melissa P.; Martignetti, John A.; Zeitlin, Robert; Lumerman, Harry; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 1 views

The finding of extensive lytic lesions in the mandible of a 19-year-old Ashkenazi Jewish woman led to the diagnosis of Type 1 Gaucher disease. She had extensive skeletal involvement, marked hepatosplenomegaly, and deficient acid ␤-glucosidase activity. Mutation analysis identified heteroallelism for