Results 101 to 110 of about 8,162 (165)

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond. [PDF]

BioDrugs
Zanetti A, Tomanin R.
europepmc   +1 more source

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. [PDF]

Hum Genomics
Zanetti A, D'Avanzo F, Tomanin R.
europepmc   +1 more source

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report. [PDF]

Mol Genet Metab Rep
Hattori Y, Kido J, Sugawara K, Sawada T, Matsumoto S, Nakamura K.   +5 more
europepmc   +1 more source

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement. [PDF]

Orphanet J Rare Dis
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM.   +7 more
europepmc   +1 more source

Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities. [PDF]

Orphanet J Rare Dis
Dempsey J, Daniels J, Katiri R, Thomas S, Metryka A, de Kruijf M, Wilkinson S, Jones SA, Bruce IA.   +8 more
europepmc   +1 more source

Respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report. [PDF]

Int Cancer Conf J
Hoshi M, Ban Y, Iwai T, Takada N, Oebisu N.   +4 more
europepmc   +1 more source

Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc. [PDF]

Cell Death Dis
Manzoli R, Badenetti L, Bruzzone M, Macario MC, Rubin M, Dal Maschio M, Roveri A, Moro E.   +7 more
europepmc   +1 more source

Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential. [PDF]

Cell Death Dis
Chen TY, Lin SP, Huang DF, Huang HS, Tsai FC, Lee LJ, Lin HY, Huang HP.   +7 more
europepmc   +1 more source

Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]. [PDF]

Mol Genet Metab Rep
Yamazaki N, Ohira M, Takada S, Ohtake A, Onodera M, Nakanishi M, Okuyama T, Mashima R.   +7 more
europepmc   +1 more source

Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice. [PDF]

Mol Ther Methods Clin Dev
Smith MC, Belur LR, Karlen AD, Erlanson O, Furcich J, Lund TC, Seelig D, Kitto KF, Fairbanks CA, Kim KH, Buss N, McIvor RS.   +11 more
europepmc   +1 more source