Works matching DE "MAPLE syrup urine disease"

Results: 139
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    Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.

    Published in:
    2020
    By:
    • Margutti, Ana Vitoria Barban;
    • Silva, Wilson Araújo;
    • Garcia, Daniel Fantozzi;
    • de Molfetta, Greice Andreotti;
    • Marques, Adriana Aparecida;
    • Amorim, Tatiana;
    • Prazeres, Vânia Mesquita Gadelha;
    • Boy da Silva, Raquel Tavares;
    • Miura, Irene Kazue;
    • Seda Neto, João;
    • Santos, Emerson de Santana;
    • Santos, Mara Lúcia Schmitz Ferreira;
    • Lourenço, Charles Marques;
    • Tonon, Tássia;
    • Sperb-Ludwig, Fernanda;
    • de Souza, Carolina Fischinger Moura;
    • Schwartz, Ida Vanessa Döederlein;
    • Camelo, José Simon;
    • Silva, Wilson Araújo Jr;
    • Camelo, José Simon Jr
    Publication type:
    journal article
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    The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 70, doi. 10.3390/ijns10040070
    By:
    • Martens, Rosalie C.;
    • Boelen, Anita;
    • van der Kemp, Michèle H.;
    • Bosch, Annet M.;
    • Berghout, Eveline M.;
    • Weijman, Gert;
    • Zwaveling-Soonawala, Nitash;
    • Verschoof-Puite, Rendelien K.;
    • de Jonge, Robert;
    • Hannema, Sabine E.;
    • Bosmans, Judith E.;
    • Heijboer, Annemieke C.
    Publication type:
    Article
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    Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect

    Published in:
    International Journal of Developmental Neuroscience, 2013, v. 31, n. 1, p. 21, doi. 10.1016/j.ijdevneu.2012.10.109
    By:
    • Mescka, Caroline Paula;
    • Wayhs, Carlos Alberto Yasin;
    • Vanzin, Camila Simioni;
    • Biancini, Giovana Brondani;
    • Guerreiro, Gilian;
    • Manfredini, Vanusa;
    • Souza, Carolina;
    • Wajner, Moacir;
    • Dutra-filho, Carlos Severo;
    • Vargas, Carmen Regla
    Publication type:
    Article
    20

    Abstracts.

    Published in:
    2018
    Publication type:
    Abstract
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