Works matching DE "MUCOPOLYSACCHARIDOSIS"

Results: 844
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    Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #599 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf)

    Published in:
    Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128
    By:
    • Chi Hwa Kim;
    • Hye Zin Hwang;
    • Seng Mi Song;
    • Kyung Hoon Paik;
    • Eun Kyung Kwon;
    • Kwang Bin Moon;
    • Jeong Hyeok Yoon;
    • Cheol Kyu Han
    Publication type:
    Article
    2

    Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #599 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf

    Published in:
    Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128
    By:
    • Chi Hwa Kim;
    • Hye Zin Hwang;
    • Seng Mi Song;
    • Kyung Hoon Paik;
    • Eun Kyung Kwon;
    • Kwang Bin Moon;
    • Jeong Hyeok Yoon;
    • Cheol Kyu Han;
    • Dong?Kyu Jin
    Publication type:
    Article
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    Evaluation of cardiac findings in mucopolysaccharidosis.

    Published in:
    International Journal of Cardiovascular Imaging, 2024, v. 40, n. 1, p. 73, doi. 10.1007/s10554-023-02983-y
    By:
    • Dehghan, Bahar;
    • Rostampour, Noushin;
    • Sedighi, Mohsen;
    • Saryazdi, Mohammad Hosseini;
    • Rizi, Mohammad Jokar;
    • Mostofizadeh, Neda;
    • Hashemipour, Mahin;
    • Khoshhali, Mehri
    Publication type:
    Article
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    Bone Growth Induction in Mucopolysaccharidosis IVA Mouse.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 9890, doi. 10.3390/ijms24129890
    By:
    • Rintz, Estera;
    • Herreño-Pachón, Angélica María;
    • Celik, Betul;
    • Nidhi, Fnu;
    • Khan, Shaukat;
    • Benincore-Flórez, Eliana;
    • Tomatsu, Shunji
    Publication type:
    Article
    44

    A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5647, doi. 10.3390/ijms24065647
    By:
    • Sofronova, Viktoriia;
    • Gurinova, Elizaveta;
    • Petukhova, Diana;
    • Fukamatsu, Hiroko;
    • Yamamoto, Takenobu;
    • Aoyama, Yumi;
    • Golikova, Polina;
    • Moskvitin, Gavril;
    • Ivanova, Roza;
    • Savvina, Mira;
    • Vasilev, Filipp;
    • Moriwaki, Takahito;
    • Terawaki, Seigo;
    • Sukhomyasova, Aitalina;
    • Maksimova, Nadezhda;
    • Otomo, Takanobu
    Publication type:
    Article
    45

    Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4521, doi. 10.3390/ijms24054521
    By:
    • Siddiqui, Amna;
    • Dundar, Halil;
    • Sharma, Jyoti;
    • Kaczmarczyk, Aneta;
    • Echols, Josh;
    • Dai, Yanying;
    • Sun, Chuanxi Richard;
    • Du, Ming;
    • Liu, Zhong;
    • Zhao, Rui;
    • Wood, Tim;
    • Sanders, Shalisa;
    • Rasmussen, Lynn;
    • Bostwick, James Robert;
    • Augelli-Szafran, Corinne;
    • Suto, Mark;
    • Rowe, Steven M.;
    • Bedwell, David M.;
    • Keeling, Kim M.
    Publication type:
    Article
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    Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12693, doi. 10.3390/ijms232012693
    By:
    • Piechnik, Matthew;
    • Amendum, Paige C.;
    • Sawamoto, Kazuki;
    • Stapleton, Molly;
    • Khan, Shaukat;
    • Fnu, Nidhi;
    • Álvarez, Victor;
    • Pachon, Angelica Maria Herreño;
    • Danos, Olivier;
    • Bruder, Joseph T.;
    • Karumuthil-Melethil, Subha;
    • Tomatsu, Shunji
    Publication type:
    Article
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