✦ LIBER ✦

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

✍ Scribed by Wei-De Lin; Shuan-Pei Lin; Chung-Hsing Wang; Wuh-Liang Hwu; Chih-Kuang Chuang; Shio-Jean Lin; Yushin Tsai; Chih-Ping Chen; Fuu-Jen Tsai

Book ID: 116347944
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 139 KB
Volume: 394
Category: Article
ISSN: 0009-8981
DOI: 10.1016/j.cca.2008.04.014

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational analysis of 105 mucopolysacch

Mutational analysis of 105 mucopolysaccharidosis type VI patients

✍ Litsa Karageorgos; Doug A. Brooks; Anthony Pollard; Elizabeth L. Melville; Leann 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 294 KB 👁 1 views

## Communicated by William Sly Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans

Genetic studies in a cluster of Mucopoly

Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

✍ Fabiana Moura Costa-Motta; Angelina Xavier Acosta; Kiyoko Abé-Sandes; Fernanda B 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 560 KB

Sleep abnormalities in untreated patient

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI

✍ Ângela John; Simone Fagondes; Ida Schwartz; Ana Cecília Azevedo; Patrícia Barrio 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 1 views

259 SLEEP EVALUATION IN PATIENTS WITH MU

259 SLEEP EVALUATION IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VI

✍ A. John; S. Fagondes; I. Schwartz; A.C. Azevedo; P. Barrios; P. Dalcin; S.M. Bar 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 61 KB

Natural history of Polish patients with

Natural history of Polish patients with mucopolysaccharidosis type VI

✍ Jurecka, Agnieszka ;Rozdzynska, Agnieszka ;Marucha, Jolanta ;Czartoryska, Barbar 📂 Article 📅 2011 🏛 Walter de Gruyter GmbH 🌐 English ⚖ 876 KB

Natural history of Polish patients with

Natural history of Polish patients with mucopolysaccharidosis type VI

✍ Jurecka, Agnieszka ;Rozdzynska, Agnieszka ;Marucha, Jolanta ;Czartoryska, Barbar 📂 Article 📅 2011 🏛 Walter de Gruyter GmbH 🌐 English ⚖ 876 KB

The aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. Clinical heterogeneity was observed and two major clinical phenotypes of the disease were distinguished, rapi