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Journal Abstract Search

206 related items for PubMed ID: 33335838

  • 1. A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.
    Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T.
    Mol Genet Metab Rep; 2020 Dec; 25():100692. PubMed ID: 33335838
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  • 2. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
    Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S.
    Gene; 2013 Sep 10; 526(2):150-4. PubMed ID: 23707223
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  • 5. Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.
    Maccari F, Rigon L, Mantovani V, Galeotti F, Salvalaio M, D'Avanzo F, Zanetti A, Capitani F, Gabrielli O, Tomanin R, Volpi N.
    J Mol Med (Berl); 2022 Aug 10; 100(8):1169-1179. PubMed ID: 35816218
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  • 6. A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II.
    Jin P, Hao JW, Chen K, Dong CS, Yang YB, Mo ZH.
    Gene; 2013 Oct 10; 528(2):236-40. PubMed ID: 23867855
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  • 10. A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.
    Mashima R, Ohira M, Okuyama T, Onodera M, Takada S.
    Sci Rep; 2023 May 15; 13(1):7865. PubMed ID: 37188686
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  • 11. Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
    Alves S, Mangas M, Prata MJ, Ribeiro G, Lopes L, Ribeiro H, Pinto-Basto J, Lima MR, Lacerda L.
    J Inherit Metab Dis; 2006 Dec 15; 29(6):743-54. PubMed ID: 17063374
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  • 12. Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
    Ngiwsara L, Rojnueangnit K, Wattanasirichaigoon D, Tim-Aroon T, Sawangareetrakul P, Champattanachai V, Ketudat-Cairns JR, Svasti J.
    Exp Ther Med; 2017 Jun 15; 13(6):2989-2996. PubMed ID: 28588666
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  • 13. Phenotypic Correction of Murine Mucopolysaccharidosis Type II by Engraftment of Ex Vivo Lentiviral Vector-Transduced Hematopoietic Stem and Progenitor Cells.
    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.
    Hum Gene Ther; 2022 Dec 15; 33(23-24):1279-1292. PubMed ID: 36226412
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  • 15. Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
    Higuchi T, Shimizu H, Fukuda T, Kawagoe S, Matsumoto J, Shimada Y, Kobayashi H, Ida H, Ohashi T, Morimoto H, Hirato T, Nishino K, Eto Y.
    Mol Genet Metab; 2012 Sep 15; 107(1-2):122-8. PubMed ID: 22704483
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  • 17. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
    Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK.
    Clin Genet; 2012 Feb 15; 81(2):185-90. PubMed ID: 21291454
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  • 18. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
    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.
    J Pers Med; 2022 Jun 21; 12(7):. PubMed ID: 35887520
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