Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants

2019 ◽  
Vol 491 ◽  
pp. 114-120 ◽  
Author(s):  
Wen Zhang ◽  
Ting Xie ◽  
Huiying Sheng ◽  
Yongxian Shao ◽  
Yunting Lin ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Functional Characterization ◽  
Chinese Patients ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy

2010 ◽  
Vol 30 (1) ◽  
pp. 13-18 ◽  
Author(s):  
Sung-Chul Jung ◽  
Eun-Sook Park ◽  
Eun Nam Choi ◽  
Chi Hwa Kim ◽  
Su Jin Kim ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method

2005 ◽  
Vol 25 (5) ◽  
pp. 491-497 ◽  
Author(s):  
Susanna Lualdi ◽  
Stefano Regis ◽  
Maja Di Rocco ◽  
Fabio Corsolini ◽  
Marina Stroppiano ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Rapid Pcr

Mucopolysaccharidosis type II (Hunter syndrome): Characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts

1994 ◽  
Vol 17 (1) ◽  
pp. 89-92 ◽  
Author(s):  
L. Petruschka ◽  
M. Zschiesche ◽  
J. Bielicki ◽  
G. Seidlitz ◽  
G. Machill ◽  
...  
Keyword(s):  
Hunter Syndrome ◽  
Skin Fibroblasts ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii

Molecular characterization of 103 South American patients with mucopolysaccharidosis type II reveals 30 novel mutations

2014 ◽  
Vol 111 (2) ◽  
pp. S28
Author(s):  
Ana C. Brusius-Facchin ◽  
Ida V.D. Schwartz ◽  
Francyne Kubaski ◽  
Roberto Giugliani ◽  
Sandra Leistner-Segal
Keyword(s):  
Molecular Characterization ◽  
South American ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Novel Mutations

The characterization of mouse model of mucopolysaccharidosis type II

2015 ◽  
Vol 114 (2) ◽  
pp. S64
Author(s):  
Masafumi Kinoshita ◽  
Hideto Morimoto ◽  
Eiji Yoden
Keyword(s):  
Mouse Model ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii
Sign in / Sign up

Export Citation Format

Share Document