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

Type Ii ◽

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-006-0403-z ◽

2006 ◽

Vol 29 (6) ◽

pp. 743-754 ◽

Cited By ~ 22

Author(s):

S. Alves ◽

M. Mangas ◽

M. J. Prata ◽

G. Ribeiro ◽

L. Lopes ◽

...

Keyword(s):

Molecular Characterization ◽

Type Ii ◽

Splicing Mutations

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

Molecules and Cells ◽

10.1007/s10059-010-0083-2 ◽

2010 ◽

Vol 30 (1) ◽

pp. 13-18 ◽

Cited By ~ 25

Author(s):

Sung-Chul Jung ◽

Eun-Sook Park ◽

Eun Nam Choi ◽

Chi Hwa Kim ◽

Su Jin Kim ◽

...

Keyword(s):

Gene Therapy ◽

Mouse Model ◽

Type Ii ◽

Mucopolysaccharidosis Type Ii

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.05.003 ◽

2016 ◽

Vol 118 (3) ◽

pp. 190-197 ◽

Cited By ~ 25

Author(s):

Motomichi Kosuga ◽

Ryuichi Mashima ◽

Asami Hirakiyama ◽

Naoko Fuji ◽

Tadayuki Kumagai ◽

...

Keyword(s):

Molecular Diagnosis ◽

Hunter Syndrome ◽

Type Ii ◽

Structural Studies ◽

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

Human Mutation ◽

10.1002/(sici)1098-1004(1997)10:1<71::aid-humu10>3.0.co;2-x ◽

1997 ◽

Vol 10 (1) ◽

pp. 71-75 ◽

Cited By ~ 10

Author(s):

Guglielmo R. D. Villani ◽

Nicola Balzano ◽

Michela Grosso ◽

Francesco Salvatore ◽

Paola Izzo ◽

...

Keyword(s):

Type Ii ◽

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

Human Mutation ◽

10.1002/humu.20165 ◽

2005 ◽

Vol 25 (5) ◽

pp. 491-497 ◽

Cited By ~ 23

Author(s):

Susanna Lualdi ◽

Stefano Regis ◽

Maja Di Rocco ◽

Fabio Corsolini ◽

Marina Stroppiano ◽

...

Keyword(s):

Type Ii ◽

Rapid Pcr

Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II

Clinica Chimica Acta ◽

10.1016/j.cca.2007.06.014 ◽

2007 ◽

Vol 384 (1-2) ◽

pp. 167-170 ◽

Cited By ~ 2

Author(s):

Jui-Hung Chang ◽

Shuan-Pei Lin ◽

Chih-Kuang Chuang ◽

Guey-Jen Lee-Chen

Keyword(s):

Splice Site ◽

Splice Site Mutation ◽

Type Ii ◽

Site Mutation

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

Clinical Genetics ◽

10.1111/j.1399-0004.2011.01641.x ◽

2011 ◽

Vol 81 (2) ◽

pp. 185-190 ◽

Cited By ~ 17

Author(s):

YB Sohn ◽

C-S Ki ◽

C-H Kim ◽

A-R Ko ◽

Y-J Yook ◽

...

Keyword(s):

Type Ii ◽

Novel Mutations ◽

Korean Patients

Mini-review on "Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase".

Journal of Rare Diseases Research & Treatment ◽

10.29245/2572-9411/2017/1.1079 ◽

2017 ◽

Vol 2 (1) ◽

pp. 43-46 ◽

Cited By ~ 1

Author(s):

Ryuichi Mashima

Keyword(s):

Molecular Diagnosis ◽

Hunter Syndrome ◽

Type Ii ◽

Structural Studies ◽

Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations

Clinical Genetics ◽

10.1034/j.1399-0004.2001.600412.x ◽

2002 ◽

Vol 60 (4) ◽

pp. 316-318 ◽

Cited By ~ 12

Author(s):

I Moreira da Silva ◽

R Froissart ◽

H Marques dos Santos ◽

C Caseiro ◽

I Maire ◽

...

Keyword(s):

Molecular Basis ◽

Type Ii ◽

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2014.08.006 ◽

2014 ◽

Vol 1 ◽

pp. 401-406 ◽

Cited By ~ 7

Author(s):

H. Amartino ◽

R. Ceci ◽

F. Masllorens ◽

A. Gal ◽

C. Arberas ◽

...

Keyword(s):

Hunter Syndrome ◽

Type Ii ◽