Works matching Sulfite oxidase deficiency


Results: 48
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    Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies.

    Published in:
    Cellular & Molecular Neurobiology, 2023, v. 43, n. 6, p. 2895, doi. 10.1007/s10571-023-01328-6
    By:
    • Pramio, Júlia;
    • Grings, Mateus;
    • da Rosa, Amanda Gasparin;
    • Ribeiro, Rafael Teixeira;
    • Glanzel, Nícolas Manzke;
    • Signori, Marian Flores;
    • Marcuzzo, Manuela Bianchin;
    • Bobermin, Larissa Daniele;
    • Wyse, Angela T. S.;
    • Quincozes-Santos, André;
    • Wajner, Moacir;
    • Leipnitz, Guilhian
    Publication type:
    Article
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    Isolated sulfite oxidase deficiency: a founder mutation.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900
    By:
    • Mhanni, Aizeddin A.;
    • Greenberg, Cheryl R.;
    • Spriggs, Elizabeth L.;
    • Agatep, Ronald;
    • Sisk, Reena Ray;
    • Prasad, Chitra
    Publication type:
    Article
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    Neurologic Injury in Isolated Sulfite Oxidase Deficiency.

    Published in:
    Canadian Journal of Neurological Sciences, 2014, v. 41, n. 1, p. 42, doi. 10.1017/S0317167100016243
    By:
    • Bosley, Thomas M.;
    • Alorainy, Ibrahim A.;
    • Oystreck, Darren T.;
    • Hellani, Ali M.;
    • Seidahmed, Mohammed Z.;
    • Osman, Mohamed El Faki;
    • Sabry, Mohamed A.;
    • Rashed, Mohamed S.;
    • Al-Yamani, Eiman A.;
    • Abu-Amero, Khaled K.;
    • Salih, Mustafa A.
    Publication type:
    Article
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    Preimplantation Genetic Diagnosis in Isolated Sulfite Oxidase Deficiency.

    Published in:
    Canadian Journal of Neurological Sciences, 2013, v. 40, n. 1, p. 109, doi. 10.1017/S0317167100013081
    By:
    • Salih, Mustafa A.;
    • Bosley, Thomas M.;
    • Alorainy, Ibrahim A.;
    • Sabry, Mohamed A.;
    • Rashed, Mohamed S.;
    • Al-Yamani, Eiman A.;
    • El-Akoum, Siham;
    • Mohamed, Sarar H.;
    • Abu-Amero, Khaled K.;
    • Hellani, Ali M.
    Publication type:
    Article
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    Isolated sulfite oxidase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 101, doi. 10.1007/s10545-017-0089-4
    By:
    • Claerhout, Helena;
    • Witters, Peter;
    • Régal, Luc;
    • Jansen, Katrien;
    • Van Hoestenberghe, Marie-Rose;
    • Breckpot, Jeroen;
    • Vermeersch, Pieter
    Publication type:
    Article
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    Genetics of Ectopia Lentis.

    Published in:
    Seminars in Ophthalmology, 2013, v. 28, n. 5/6, p. 313, doi. 10.3109/08820538.2013.825276
    By:
    • Sadiq, Mohammad Ali;
    • Vanderveen, Deborah
    Publication type:
    Article
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    Severe isolated sulfide oxidase deficiency with a novel mutation.

    Published in:
    Turkish Journal of Pediatrics, 2021, v. 63, n. 4, p. 716, doi. 10.24953/turkjped.2021.04.021
    By:
    • Ergene, Meriç;
    • Yarar, Nuriye;
    • Öncel, Elif Perihan;
    • Sezer, Taner;
    • Çavdarlı, Büşranur;
    • Ecevit, İsmail Zafer;
    • Aydın, Halil İbrahim
    Publication type:
    Article
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    Increased ROS levels, antioxidant defense disturbances and bioenergetic disruption induced by thiosulfate administration in the brain of neonatal rats.

    Published in:
    Metabolic Brain Disease, 2025, v. 40, n. 1, p. 1, doi. 10.1007/s11011-024-01510-9
    By:
    • Glänzel, Nícolas Manzke;
    • da Rosa-Junior, Nevton Teixeira;
    • Signori, Marian F.;
    • de Andrade Silveira, Josyane;
    • Pinheiro, Camila Vieira;
    • Marcuzzo, Manuela Bianchin;
    • Campos-Carraro, Cristina;
    • da Rosa Araujo, Alex Sander;
    • Schiöth, Helgi B.;
    • Wajner, Moacir;
    • Leipnitz, Guilhian
    Publication type:
    Article
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