Results 111 to 120 of about 12,041 (191)

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation. [PDF]

Turk Arch Pediatr
Buchinskaia NV, Zakharova EY, Yulia S K, Anastasia O V, Skitchenko RK, Aleksandr M N, Kurilova VI, Maximova YV, Aksyanova KF, Bakulina EG, Kononenko NI, Osipova EV, Kostik MM, Kutsev SI.   +13 more
europepmc   +1 more source

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II. [PDF]

BMC Med Genomics, 2021
Zhang C, Hao S, Meng Z, Hui L, Wang Y, Xuan F, Chen X, Wang X, Zheng F, Zheng L, Zhou B, Wu X, Zhang Q, Cao Z.   +13 more
europepmc   +1 more source

Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase. [PDF]

Neurotherapeutics
Jin X, Ye Q, Wu X, Su J, Song L, Fu J, Xu Q, Luo M, Liu F, Ren C, Hu M, Liu M, An Y, Li Q, Li M, Yang Y.   +15 more
europepmc   +1 more source

iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II. [PDF]

Exp Cell Res, 2022
Hong J, Cheng YS, Yang S, Swaroop M, Xu M, Beers J, Zou J, Huang W, Marugan JJ, Cai X, Zheng W.   +10 more
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age. [PDF]

Mol Genet Metab Rep
Ikari A, Hama A, Okuyama T.
europepmc   +1 more source

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan. [PDF]

J Pers Med, 2022
Lin HY, Chang YH, Lee CL, Tu YR, Lo YT, Hung PW, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP.   +14 more
europepmc   +1 more source

Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts. [PDF]

Int J Neonatal Screen
Beauregard-Lacroix É, Menello C, Steffensen M, Lin HY, Chuang CK, Lin SP, Ficicioglu C.   +6 more
europepmc   +1 more source

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

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