Results 111 to 120 of about 12,452,915 (192)

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

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

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II. [PDF]

Mol Ther Methods Clin Dev, 2023
Catalano F, Vlaar EC, Katsavelis D, Dammou Z, Huizer TF, van den Bosch JC, Hoogeveen-Westerveld M, van den Hout HJMP, Oussoren E, Ruijter GJG, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP.   +14 more
europepmc   +1 more source

Ex-vivo gene therapy treats bone complications of mucopolysaccharidosis type II mouse models through bone remodeling reactivation

Wada M, Shimada Y, Iizuka S, Ishii N, Hiraki H, Tachibana T, Maeda K, Saito M, Arakawa S, Ishimoto T, Nakano T, Ida H, Ohashi T, Kobayashi H. ExVivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone ...
ワダ, ミホ, Wada, Miho, 和田, 美穂   +2 more
core  

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

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

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

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

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

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