Results 111 to 120 of about 12,127 (209)

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II. [PDF]

Mol Genet Metab Rep, 2023
Yamazaki N, Ohira M, Takada S, Ohtake A, Onodera M, Nakanishi M, Okuyama T, Mashima R.   +7 more
europepmc   +1 more source

Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II. [PDF]

Mol Genet Metab, 2023
Smith MC, Belur LR, Karlen AD, Podetz-Pedersen K, Erlanson O, Laoharawee K, Furcich J, Lund TC, You Y, Seelig D, Webber BR, McIvor RS.   +11 more
europepmc   +1 more source

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan. [PDF]

Mol Genet Metab Rep, 2023
Hattori Y, Sawada T, Kido J, Sugawara K, Yoshida S, Matsumoto S, Inoue T, Hirose S, Nakamura K.   +8 more
europepmc   +1 more source

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States. [PDF]

Genet Med, 2023
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rosé AM, Comeau AM, Tanksley S, Powell CM, Kemper AR.   +10 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

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

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

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

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