Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

JIMD Reports - JIMD Reports - Volume 10 ◽

10.1007/8904_2012_204 ◽

2012 ◽

pp. 61-68 ◽

Cited By ~ 3

Author(s):

Laura López-Marín ◽

Luis G. Gutiérrez-Solana ◽

Luis Aldamiz-Echevarria Azuara ◽

Rogelio Simón de las Heras ◽

Anna Duat Rodríguez ◽

...

Keyword(s):

At Risk ◽

Spanish Population ◽

Mucopolysaccharidosis Type ◽

Type Ii ◽

Mucopolysaccharidosis Type Ii

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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

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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

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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

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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

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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

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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

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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

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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 ◽

Mucopolysaccharidosis Type ◽

Type Ii ◽

Mucopolysaccharidosis Type Ii ◽

Transcatheter Aortic Valve ◽

Aortic Valve Implantation ◽

Valve Implantation ◽

Severe Airway Obstruction

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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 ◽

Mucopolysaccharidosis Type ◽

Type Ii ◽

Mucopolysaccharidosis Type Ii

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