Works matching DE "BROWN-Vialetto-Van Laere syndrome"


Results: 21
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    Brown-Vialetto-Van Laere syndrome.

    Published in:
    Iranian Journal of Child Neurology, 2024, v. 18, n. 2, p. 141, doi. 10.22037/ijcn.v18i2.37314
    By:
    • IMANNEZHAD, Shima;
    • GHAYOOR KARIMIANI, Ehsan;
    • SEZAVAR, Majid;
    • KHADEMI, Gholam Reza;
    • NASERI, Maryam;
    • ASHRAFZADEH, Farah
    Publication type:
    Article
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    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

    Published in:
    2017
    By:
    • Manole, Andreea;
    • Jaunmuktane, Zane;
    • Hargreaves, Iain;
    • Ludtmann, Marthe H. R.;
    • Salpietro, Vincenzo;
    • Bello, Oscar D.;
    • Pope, Simon;
    • Pandraud, Amelie;
    • Horga, Alejandro;
    • Scalco, Renata S.;
    • Abi Li;
    • Ashokkumar, Balasubramaniem;
    • Lourenc, Charles M.;
    • Heales, Simon;
    • Horvath, Rita;
    • Chinnery, Patrick F.;
    • Toro, Camilo;
    • Singleton, Andrew B.;
    • Jacques, Thomas S.;
    • Abramov, Andrey Y.
    Publication type:
    journal article
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    Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 44, doi. 10.1093/brain/awt315
    By:
    • Foley, A. Reghan;
    • Menezes, Manoj P.;
    • Pandraud, Amelie;
    • Gonzalez, Michael A.;
    • Al-Odaib, Ahmad;
    • Abrams, Alexander J.;
    • Sugano, Kumiko;
    • Yonezawa, Atsushi;
    • Manzur, Adnan Y.;
    • Burns, Joshua;
    • Hughes, Imelda;
    • McCullagh, B. Gary;
    • Jungbluth, Heinz;
    • Lim, Ming J.;
    • Lin, Jean-Pierre;
    • Megarbane, Andre;
    • Urtizberea, J. Andoni;
    • Shah, Ayaz H.;
    • Antony, Jayne;
    • Webster, Richard
    Publication type:
    Article
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    Audiologic results of a child with BVVL syndrome.

    Published in:
    Annals of Medical of Research, 2023, v. 30, n. 8, p. 976, doi. 10.5455/annalsmedres.2023.07.162
    By:
    • Yilmaz, Oguz;
    • Gundogdu, Ogulcan;
    • Tunc, Ayberk Aydin;
    • Cakir, Mustafa
    Publication type:
    Article
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