✦ LIBER ✦

Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations

✍ Scribed by Irene Vieitez; Susana Teijeira; Jose M. Fernandez; Beatriz San Millan; Sara Miranda; Saida Ortolano; Sarah Louis; Pascal Laforet; Carmen Navarro

Book ID: 116795183
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 495 KB
Volume: 21
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2011.07.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular characterization of a large co

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: An Italian multicenter study

✍ Gigliola Di Matteo; Lucia Giordani; Andrea Finocchi; Annamaria Ventura; Maria Ch 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 316 KB

658 Identification of a novel mutation i

658 Identification of a novel mutation in wilson disease patients from upper-austria: A genetic and clinical study

✍ H. Hofer; C. Willheim-Polli; E. Hackl; P. Knoflach; C. Gabriel; P. Ferenci 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 130 KB

Study of mutations in Jordanian patients

Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations

✍ A. AWIDI; M. RAMAHI; D. AlHATTAB; R. MEFLEH; M. DWEIRI; N. BSOUL; A. MAGABLAH; E 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 212 KB

Identification of a Novel Mutation and P

Identification of a Novel Mutation and Prevalence Study for Fabry Disease in Japanese Dialysis Patients

✍ Nishino, Tomoya; Obata, Yoko; Furusu, Akira; Hirose, Misaki; Shinzato, Ken; Hatt 📂 Article 📅 2012 🏛 Informa plc 🌐 English ⚖ 336 KB

Identification of a novel Wilson disease

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study

✍ Hofer, Harald; Willheim-Polli, Claudia; Knoflach, Peter; Gabriel, Christian; Vog 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 233 KB

Identification of molecular defects in I

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

✍ Paola Di Natale; Nicola Balzano; Sabrina Esposito; Guglielmo R. D. Villani 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 1 views

Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneration r