✦ LIBER ✦

A β-galactosidase gene mutation identified in both Morquio B disease and infantile GM1gangliosidosis

✍ Scribed by Y. Suzuki; A. Oshima

Publisher: Springer
Year: 1993
Tongue: English
Weight: 70 KB
Volume: 91
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00217370

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

GM1 gangliosidosis and Morquio B disease

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

✍ 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

β-galactosidase gene mutations affecting

β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

✍ A. Morrone; T. Bardelli; M.A. Donati; M. Giorgi; M. Di Rocco; R. Gatti; R. Parin 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB

## Communicated by Mark Paalman GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid b-galactosidase (GLB1). We report five new b-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families. Six of the eight patients with t

Twenty-one novel mutations in the GLB1 g

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

✍ Raül Santamaria; Amparo Chabás; Maria Josep Coll; Clara Sa Miranda; Lluïsa Vilag 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 1 views

## Communicated by Elizabeth Neufeld GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by β-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of onset and severit

Mutation analyses in 17 patients with de

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

✍ Eduard Paschke; Ivica Milos; Heidemarie Kreimer-Erlacher; Gerald Hoefler; Michae 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 130 KB

Novel β-galactosidase gene mutation p.W2

Novel β-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

✍ Zoran S. Gucev; Velibor Tasic; Aleksandra Jancevska; Georgi Zafirovski; Ivo Krem 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB