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

Type Ii ◽

Structural Studies ◽

Novel Mutations

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 ◽

Novel Mutations

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 ◽

Novel Mutations

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

JIMD Reports ◽

10.1002/jmd2.12239 ◽

2021 ◽

Author(s):

Kazuyoshi Tomita ◽

Shungo Okamoto ◽

Toshiyuki Seto ◽

Takashi Hamazaki ◽

Sairei So ◽

...

Keyword(s):

Case Report ◽

Developmental Trajectories ◽

Hunter Syndrome ◽

Type Ii ◽

Enzyme Replacement

HMI-203: Gene therapy developmental candidate for mucopolysaccharidosis type II (MPS II), or Hunter syndrome

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(21)00315-2 ◽

2021 ◽

Vol 132 ◽

pp. S147

Author(s):

Kruti Patel ◽

Laura Smith ◽

Tania Seabrook ◽

Alec Tzianabos ◽

Lindsay Schulman ◽

...

Keyword(s):

Gene Therapy ◽

Hunter Syndrome ◽

Type Ii ◽

Mps Ii

Transcatheter aortic valve implantation for severe aortic stenosis in a patient with mucopolysaccharidosis type II (Hunter syndrome) accompanied by severe airway obstruction

Journal of Cardiology Cases ◽

10.1016/j.jccase.2021.06.008 ◽

2021 ◽

Author(s):

Naoto Mori ◽

Hideki Kitahara ◽

Takahiro Muramatsu ◽

Kaoru Matsuura ◽

Takashi Nakayama ◽

...

Keyword(s):

Aortic Valve ◽

Severe Aortic Stenosis ◽

Hunter Syndrome ◽

Type Ii ◽

Transcatheter Aortic Valve ◽

Aortic Valve Implantation ◽

Valve Implantation ◽

Severe Airway Obstruction

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

Drug Design Development and Therapy ◽

10.2147/dddt.s139601 ◽

2017 ◽

Vol Volume 11 ◽

pp. 2467-2480 ◽

Cited By ~ 24

Author(s):

David Whiteman ◽

Alan Kimura

Keyword(s):

Hunter Syndrome ◽

Type Ii ◽

The Past ◽

The Future

DENTAL MANAGEMENT OF PATIENT WITH HUNTER SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE II) : A CASE REPORT

THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY ◽

10.5933/jkapd.2012.39.4.412 ◽

2012 ◽

Vol 39 (4) ◽

pp. 412-417

Author(s):

Min-Jeong Lee ◽

Jae-Gon Kim ◽

Yeon-Mi Yang ◽

Byeong-Ju Baik ◽

Hee-Jeong Song

Keyword(s):

Case Report ◽

Hunter Syndrome ◽

Type Ii ◽

Dental Management

Neurologic improvement in a mouse model of Hunter syndrome (mucopolysaccharidosis type II) by treatment with AAV9 vector after the development of cognitive dysfunction

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.11.274 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S107-S108

Author(s):

Kelly M Podetz-Pedersen ◽

Kanut Laoharawee ◽

Tam T Nguyen ◽

Sajya M Singh ◽

Lucy Vulchanova ◽

...

Keyword(s):

Mouse Model ◽

Cognitive Dysfunction ◽

Hunter Syndrome ◽

Type Ii ◽

Mucopolysaccharidosis Type Ii

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.34013 ◽

2011 ◽

Vol 155 (6) ◽

pp. 1329-1335 ◽

Cited By ~ 29

Author(s):

Jeong-Yi Kwon ◽

Kiljun Ko ◽

Young Bae Sohn ◽

Su Jin Kim ◽

Sung Won Park ◽

...

Keyword(s):

Carpal Tunnel Syndrome ◽

Carpal Tunnel ◽

Hunter Syndrome ◽

Type Ii ◽

High Prevalence ◽

Tunnel Syndrome

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2020.100630 ◽

2020 ◽

Vol 24 ◽

pp. 100630

Author(s):

Joo-Hyun Seo ◽

Torayuki Okuyama ◽

Elsa Shapiro ◽

Yasuyuki Fukuhara ◽

Motomichi Kosuga

Keyword(s):

Cognitive Development ◽

Natural History ◽

Hunter Syndrome ◽

Type Ii ◽

History Of ◽

Developmental Course