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Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type II from a Chinese family
Chinese Science Bulletin
◽
10.1360/982005-1312
◽
2005
◽
Vol 50
(21)
◽
pp. 2534
◽
Cited By ~ 1
Author(s):
Yibin GUO
Keyword(s):
Chinese Family
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
◽
New Mutation
Download Full-text
Related Documents
Cited By
References
Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type II from a chinese family
Chinese Science Bulletin
◽
10.1007/bf03183645
◽
2005
◽
Vol 50
(21)
◽
pp. 2534-2536
◽
Cited By ~ 3
Author(s):
Yibin Guo
◽
Jingxin Pan
◽
Chuanshu Du
Keyword(s):
Chinese Family
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
◽
New Mutation
Download Full-text
A 3′ splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II
Gene
◽
10.1016/j.gene.2013.06.084
◽
2013
◽
Vol 528
(2)
◽
pp. 236-240
◽
Cited By ~ 2
Author(s):
Ping Jin
◽
Jing-Wen Hao
◽
Ke Chen
◽
Chang-sheng Dong
◽
You-Bo Yang
◽
...
Keyword(s):
Splice Site
◽
Splice Site Mutation
◽
Chinese Family
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
◽
Site Mutation
Download Full-text
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II
World Journal of Pediatrics
◽
10.1007/s12519-012-0357-1
◽
2012
◽
Vol 8
(3)
◽
pp. 281-283
Author(s):
Xiao-Yan Li
◽
Xiu-Yu Shi
◽
Jun Ju
◽
Xiao-Hong Hu
◽
Xiao-Fan Yang
◽
...
Keyword(s):
Chinese Family
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
Download Full-text
Orthopedic manifestations in patients with mucopolysaccharidosis type II enrolled in the Hunter Outcome Survey
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2020.12.148
◽
2021
◽
Vol 132
(2)
◽
pp. S65
Author(s):
Bianca Link
◽
Jaco Botha
◽
Roberto Giugliani
Keyword(s):
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
Download Full-text
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
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
◽
Enzyme Replacement
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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
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
◽
Mps Ii
Download Full-text
Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis type II: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2020.12.170
◽
2021
◽
Vol 132
(2)
◽
pp. S73
Author(s):
Joseph Muenzer
◽
Barbara K. Burton
◽
Paul Harmatz
◽
Luis González Gutiérrez-Solana
◽
Matilde Ruiz-Garcia
◽
...
Keyword(s):
Cognitive Function
◽
Early Treatment
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
Download Full-text
Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation
Stem Cell Research
◽
10.1016/j.scr.2016.09.033
◽
2016
◽
Vol 17
(3)
◽
pp. 482-484
◽
Cited By ~ 4
Author(s):
Eszter Varga
◽
Csilla Nemes
◽
István Bock
◽
Norbert Varga
◽
Anita Fehér
◽
...
Keyword(s):
Stem Cell
◽
Pluripotent Stem Cell
◽
Induced Pluripotent Stem Cell
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Ipsc Line
◽
Mucopolysaccharidosis Type Ii
◽
Mps Ii
◽
Induced Pluripotent
Download Full-text
Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II
Molecular Genetics and Metabolism Reports
◽
10.1016/j.ymgmr.2014.11.007
◽
2015
◽
Vol 2
◽
pp. 20-24
◽
Cited By ~ 6
Author(s):
Katherine H. Kim
◽
Yoav H. Messinger
◽
Barbara K. Burton
Keyword(s):
Immune Modulation
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
◽
Antibody Titers
◽
Successful Reduction
Download Full-text
Cost-Effectiveness of the Quantification of Enzymatic Activity in Leukocytes in Comparison to Its Nonrealization for a Rare Disease in Latin America: The Case of Mucopolysaccharidosis Type II in Colombia
Value in Health Regional Issues
◽
10.1016/j.vhri.2016.01.003
◽
2016
◽
Vol 11
◽
pp. 42-48
◽
Cited By ~ 2
Author(s):
Elizabeth Parody
◽
Cesar A. Guevara
◽
Andrés Aguirre
◽
Paula M. Tello
Keyword(s):
Latin America
◽
Cost Effectiveness
◽
Enzymatic Activity
◽
Rare Disease
◽
Mucopolysaccharidosis Type
◽
Type Ii
◽
Mucopolysaccharidosis Type Ii
Download Full-text
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