Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II

Type Ii ◽

Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: Design and methods of a controlled, randomized, phase II/III multicenter study

10.1016/j.ymgme.2017.12.262 ◽

2018 ◽

Vol 123 (2) ◽

pp. S99-S100 ◽

Cited By ~ 5

Author(s):

Joseph Muenzer ◽

Barbara K. Burton ◽

Paul Harmatz ◽

Luis González Gutiérrez-Solana ◽

Matilde Ruiz-Garcia ◽

...

Keyword(s):

Cognitive Impairment ◽

Phase Ii ◽

Multicenter Study ◽

Pediatric Patients ◽

Type Ii ◽

Efficacy And Safety ◽

Randomized Phase Ii ◽

Design And Methods

Profile of patients with mucopolysaccharidosis type II without cognitive impairment who started idursulfase treatment aged >/;20 years: data on late treatment initiation from the Hunter Outcome Survey (HOS)

10.1016/j.ymgme.2016.11.194 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S80-S81

Author(s):

Heather A. Lau ◽

Julia Hennermann ◽

Nathalie Guffon ◽

Shuan-Pei Lin ◽

Virginie Jego ◽

...

Keyword(s):

Cognitive Impairment ◽

Treatment Initiation ◽

Type Ii ◽

Late Treatment

Orthopedic manifestations in patients with mucopolysaccharidosis type II enrolled in the Hunter Outcome Survey

10.1016/j.ymgme.2020.12.148 ◽

2021 ◽

Vol 132 (2) ◽

pp. S65

Author(s):

Bianca Link ◽

Jaco Botha ◽

Roberto Giugliani

Keyword(s):

Type Ii ◽

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

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

Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis type II: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT

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 ◽

Type Ii ◽

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 ◽

Type Ii ◽

Ipsc Line ◽

Mps Ii ◽

Induced Pluripotent

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 ◽

Type Ii ◽

Antibody Titers ◽

Successful Reduction

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 ◽

Type Ii ◽

New Mutation

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 ◽

Type Ii ◽