Results 111 to 120 of about 11,815 (173)

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

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update. [PDF]

Int J Neonatal Screen, 2020
Burton BK, Hickey R, Hitchins L.
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

An empowered, clinically viable hematopoietic stem cell gene therapy for the treatment of multisystemic mucopolysaccharidosis type II. [PDF]

Mol Ther
Das S, Rruga F, Montepeloso A, Dimartino A, Spadini S, Corre G, Patel J, Cavalca E, Ferro F, Gatti A, Milazzo R, Galy A, Politi LS, Rizzardi GP, Vallanti G, Poletti V, Biffi A.   +16 more
europepmc   +1 more source