Works matching Homocystinuria

Results: 585
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    Angiopathy and Stroke Associated with Homocystinuria in Childhood.

    Published in:
    Vascular & Endovascular Surgery, 2023, v. 57, n. 4, p. 417, doi. 10.1177/15385744221144978
    By:
    • Demartini, Zeferino;
    • Furtado Neves, Pedro Juan;
    • Carmo, Andre Luis Santos do;
    • Antoniuk, Sergio;
    • Bufara, Danielle Caldas;
    • Prestes, Ana Clarice Bartosievicz;
    • Rodrigues MD, Liara Bohnert;
    • Araujo, Laura Ziemba;
    • Cardoso-Demartini, Adriane
    Publication type:
    Article
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    Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study.

    Published in:
    Nutrients, 2023, v. 15, n. 9, p. 2112, doi. 10.3390/nu15092112
    By:
    • Batycka, Małgorzata;
    • Lange, Ewa;
    • Ehmke vel Emczyńska-Seliga, Ewa;
    • Jaworski, Maciej;
    • Kobylińska, Maria;
    • Lech, Natalia;
    • Samborowska, Emilia;
    • Lipiński, Patryk;
    • Perkowska, Barbara;
    • Pokora, Paulina;
    • Rokicki, Dariusz
    Publication type:
    Article
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    Betaine anhydrous in homocystinuria: results from the RoCH registry.

    Published in:
    2019
    By:
    • Valayannopoulos, Vassili;
    • Dalmau, Jaime;
    • Peña-Quintana, Luis;
    • Rigalleau, Vincent;
    • Touati, Guy;
    • Aldamiz-Echevarria, Luis;
    • Cathebras, Pascal;
    • Gay, Claire;
    • Eyer, Didier;
    • Brunet, Dominique;
    • Damaj, Léna;
    • Dobbelaere, Dries;
    • Hiéronimus, Sylvie;
    • Levrat, Virginie;
    • Maillot, François;
    • Schiff, Manuel;
    • Guffon, Nathalie;
    • Nadjar, Yann;
    • García-Cazorla, Angels;
    • Martinez-Pardo Casanova, Mercedes
    Publication type:
    journal article
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    Liver transplantation for a patient with homocystinuria.

    Published in:
    Pediatric Transplantation, 2012, v. 16, n. 7, p. E311, doi. 10.1111/j.1399-3046.2012.01666.x
    By:
    • Lin, Niang-Cheng;
    • Niu, Dau-Min;
    • Loong, Che-Chuan;
    • Hsia, Cheng-Yuan;
    • Tsai, Hsin-Lin;
    • Yeh, Yi-Chen;
    • Tsou, Mei-Yung;
    • Liu, Chin-Su
    Publication type:
    Article
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    <italic>CBS</italic> mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

    Published in:
    Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 160, doi. 10.1002/mgg3.342
    By:
    • Poloni, Soraia;
    • Sperb‐Ludwig, Fernanda;
    • Borsatto, Taciane;
    • Weber Hoss, Giovana;
    • Doriqui, Maria Juliana R.;
    • Embiruçu, Emília K.;
    • Boa‐Sorte, Ney;
    • Marques, Charles;
    • Kim, Chong A.;
    • Fischinger Moura de Souza, Carolina;
    • Rocha, Helio;
    • Ribeiro, Marcia;
    • Steiner, Carlos E.;
    • Moreno, Carolina A.;
    • Bernardi, Pricila;
    • Valadares, Eugenia;
    • Artigalas, Osvaldo;
    • Carvalho, Gerson;
    • Wanderley, Hector Y. C.;
    • Kugele, Johanna
    Publication type:
    Article
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    Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B and Folic Acid Importance.

    Published in:
    Cellular & Molecular Neurobiology, 2015, v. 35, n. 6, p. 899, doi. 10.1007/s10571-015-0185-7
    By:
    • Vanzin, Camila;
    • Mescka, Caroline;
    • Donida, Bruna;
    • Hammerschimidt, Tatiane;
    • Ribas, Graziela;
    • Kolling, Janaína;
    • Scherer, Emilene;
    • Vilarinho, Laura;
    • Nogueira, Célia;
    • Coitinho, Adriana;
    • Wajner, Moacir;
    • Wyse, Angela;
    • Vargas, Carmen
    Publication type:
    Article
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    DNA DAMAGE IN HOMOCYSTINURIA: 8-OXO-,8-DIHYDRO-2'-DEOXYGUANOSINE LEVELS IN CYSTATHIONINE-B-SYNTHASE DEFICIENT PATIENTS AND THE IN VITRO PROTECTIVE EFFECT OF N-ACETYL-L-CYSTEINE.

    Published in:
    Clinical & Biomedical Research, 2018, v. 38, n. 1, p. 50, doi. 10.4322/2357-9730.76977
    By:
    • Vanzin, Camila Simioni;
    • Mescka, Caroline Paula;
    • Donida, Bruna;
    • Marchetti, Desirèe Padilha;
    • Jacques, Carlos Eduardo;
    • Hauschild, Tatiane;
    • Faverzani, Jéssica Lamberty;
    • Deon, Marion;
    • Moura, Dinara Jaqueline;
    • Saffi, Jenifer;
    • de Moura Coelho, Daniella;
    • Wajner, Moacir;
    • de Souza Wyse, Angela Terezinha;
    • Vargas, Carmen Regla
    Publication type:
    Article
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