Results 101 to 110 of about 11,815 (173)

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature. [PDF]

Mol Genet Metab Rep, 2022
Gragnaniello V, Carraro S, Rubert L, Gueraldi D, Cazzorla C, Massa P, Zanconato S, Burlina AB.   +7 more
europepmc   +1 more source

Study on the disease burden of patients with mucopolysaccharidosis type II in China. [PDF]

Orphanet J Rare Dis
Yuan N, Li M, Wang SS, Yu HX, Wang YQ, Dong FY, Chen HX, Duan SN, Luo J.   +8 more
europepmc   +1 more source

Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy. [PDF]

J Mol Med (Berl), 2022
Maccari F, Rigon L, Mantovani V, Galeotti F, Salvalaio M, D'Avanzo F, Zanetti A, Capitani F, Gabrielli O, Tomanin R, Volpi N.   +10 more
europepmc   +1 more source

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +1 more source

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice. [PDF]

Sci Rep
Lee H, Han JH, Jeong RG, Kang YJ, Choi BH, Kim SR, Cheon CK, Hur J, Lee SY.   +8 more
europepmc   +1 more source

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study. [PDF]

Mol Genet Metab Rep, 2021
Tomita K, Okamoto S, Seto T, Hamazaki T.
europepmc   +1 more source

Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. [PDF]

Int J Mol Sci
Al-Hertani W, Pathak RR, Evuarherhe O, Carter G, Schaeffer-Koziol CR, Whiteman DAH, Wright E.   +6 more
europepmc   +1 more source

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting. [PDF]

JIMD Rep, 2021
Fuller M, Ketteridge D.
europepmc   +1 more source

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