✦ LIBER ✦

Functional studies of new GLA gene mutations leading to conformational fabry disease

✍ Scribed by C. Filoni; A. Caciotti; L. Carraresi; C. Cavicchi; R. Parini; D. Antuzzi; A. Zampetti; S. Feriozzi; P. Poisetti; S.C. Garman; R. Guerrini; E. Zammarchi; M.A. Donati; A. Morrone

Book ID: 116270839
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 391 KB
Volume: 1802
Category: Article
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2009.11.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations of the GLA gene in Japan

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone

✍ Masaaki Shimotori; Hiroki Maruyama; Gen Nakamura; Takayuki Suyama; Fumiko Sakamo 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 613 KB

Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.22). The causative mutations are diverse, include both large rearrangements and single-base substitutions, and are dispersed throughout the 7 exons of the a

Phase 3 FACETS study of migalastat HCl f

Phase 3 FACETS study of migalastat HCl for Fabry disease: post hoc GLA mutation-based identification of subjects likely to show a drug effect

✍ Barlow, Carrolee; Castelli, Jeff; Benjamin, Elfrida; Yu, Julie; France, Nicholas 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 50 KB

A double-blind, randomized, placebo-cont

A double-blind, randomized, placebo-controlled study to evaluate the efficacy, safety and pharmacodynamics of AT1001 in patients with Fabry disease and AT1001-responsive GLA mutations

✍ Mathews Adera; Chemise Overton; Pol Boudes 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 73 KB

A new mutation of the lamin A/C gene lea

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

✍ Goizet, C 📂 Article 📅 2004 🏛 BMJ Publishing Group 🌐 English ⚖ 512 KB

A randomized, open-label study to compar

A randomized, open-label study to compare the efficacy and safety of AT1001 and enzyme replacement therapy (ERT) in patients with Fabry disease and AT1001-responsive GLA mutations, who were previously treated with ERT

✍ Mathews Adera; Allison Gladden; Pol Boudes 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 60 KB

Functional analysis of a new splice site

Functional analysis of a new splice site mutation, c.605-3C > A, in the cystinuria gene SLC7A9 leading to exon skipping

✍ Christa Schmidt; Sven Lahme; Klaus Zerres; Thomas Eggermann 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 323 KB