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

Type Ii ◽

Novel Mutations ◽

Korean Patients

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 ◽

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 ◽

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2013.08.011 ◽

2014 ◽

Vol 111 (2) ◽

pp. 133-138 ◽

Cited By ~ 27

Author(s):

A.C. Brusius-Facchin ◽

I.V.D. Schwartz ◽

C. Zimmer ◽

M.G. Ribeiro ◽

A.X. Acosta ◽

...

Keyword(s):

Latin American ◽

Type Ii ◽

Identification of novel mutations in exon 1 of iduronate-2-sulfatase gene from mucopolysaccharidosis type II patient in Indonesia

10.1063/5.0042045 ◽

2021 ◽

Author(s):

A. R. Widyaningrum ◽

N. M. Prakoso ◽

R. Priambodo ◽

Y. A. Aswin ◽

C. N. Hafifah ◽

...

Keyword(s):

Type Ii ◽

Novel Mutations ◽

Exon 1

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Journal of Korean Medical Science ◽

10.3346/jkms.2014.29.2.254 ◽

2014 ◽

Vol 29 (2) ◽

pp. 254 ◽

Cited By ~ 10

Author(s):

Sung Yoon Cho ◽

Rimm Huh ◽

Mi Sun Chang ◽

Jieun Lee ◽

Younghee Kwun ◽

...

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Linear Growth ◽

Hunter Syndrome ◽

Type Ii ◽

Korean Patients ◽

Enzyme Replacement

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.34371 ◽

2011 ◽

Vol 158A (1) ◽

pp. 90-96 ◽

Cited By ~ 11

Author(s):

Young Bae Sohn ◽

Eun Wha Choi ◽

Su Jin Kim ◽

Sung Won Park ◽

Se-Hwa Kim ◽

...

Keyword(s):

Retrospective Analysis ◽

Clinical Manifestations ◽

Cardiovascular Complication ◽

Type Ii ◽

Korean Patients

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

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2013.12.048 ◽

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 ◽

Type Ii ◽