Results 81 to 90 of about 8,162 (165)

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya. [PDF]

Orphanet J Rare Dis
Mungai LNW, Njeru C, Njoroge A, Maina M, Ilovi S, Nduati RW, Wamalwa D, Odongkara B, Miller DE.   +8 more
europepmc   +1 more source

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China. [PDF]

Front Genet, 2023
Zhang Z, Ma M, Zhang W, Zhou Y, Yao F, Zhu L, Wei M, Qiu Z.   +7 more
europepmc   +1 more source

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry. [PDF]

World J Clin Pediatr
Buchinskaya N, Vechkasova A, Vashakmadze N, Namazova-Baranova L, Ivanov D, Zakharova E, Kutsev S, Kostik M.   +7 more
europepmc   +1 more source

Corrigendum to "iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II" [Exp. Cell Res. 412, Issue 1, 1 March 2022, 113007]. [PDF]

Exp Cell Res, 2023
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

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. [PDF]

Diagnostics (Basel)
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ.   +16 more
europepmc   +1 more source

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II. [PDF]

PLoS One
Shamoun AJ, Reis G, Ashley M, Labilloy A, Ferreira LF.   +4 more
europepmc   +1 more source

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II. [PDF]

Ann Lab Med, 2022
Kim HY, Kim MJ, Seong MW, Ko JM.
europepmc   +1 more source

Phenotypic Correction of Murine Mucopolysaccharidosis Type II by Engraftment of Ex Vivo Lentiviral Vector-Transduced Hematopoietic Stem and Progenitor Cells. [PDF]

Hum Gene Ther, 2022
Smith MC, Belur LR, Karlen AD, Erlanson O, Podetz-Pedersen KM, McKenzie J, Detellis J, Gagnidze K, Parsons G, Robinson N, Labarre S, Shah S, Furcich J, Lund TC, Tsai HC, McIvor RS, Bonner M.   +16 more
europepmc   +1 more source

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