Works matching DE "MAPLE syrup urine disease"

Results: 139
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    Molecular basis of various forms of maple syrup urine disease in Chilean patients.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1616
    By:
    • Campanholi, Diana Ruffato Resende;
    • Margutti, Ana Vitoria Barban;
    • Silva, Wilson A.;
    • Garcia, Daniel F.;
    • Molfetta, Greice A.;
    • Marques, Adriana A.;
    • Schwartz, Ida Vanessa Döederlein;
    • Cornejo, V.;
    • Hamilton, Valerie;
    • Castro, Gabriela;
    • Sperb‐Ludwig, Fernanda;
    • Borges, Ester S.;
    • Camelo, José S.
    Publication type:
    Article
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    Maple syrup urine disease in Brazil: a panorama of the last two decades.

    Published in:
    Jornal de Pediatria, 2015, v. 91, n. 3, p. 292, doi. 10.1016/j.jped.2014.08.010
    By:
    • Herbera, Silvani;
    • Schwartz, Ida Vanessa D.;
    • Nalin, Tatiéle;
    • Oliveira Netto, Cristina Brinkmann;
    • Simon Camelo Junior, José;
    • Lúcia Santos, Mara;
    • Marques Ribeiro, Erlane;
    • Schüler-Faccini, Lavinia;
    • de Souza, Carolina Fischinger Moura
    Publication type:
    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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    Acute hemodialysis therapy in neonates with inborn errors of metabolism.

    Published in:
    Pediatric Nephrology, 2022, v. 37, n. 11, p. 2725, doi. 10.1007/s00467-022-05507-3
    By:
    • Eisenstein, Israel;
    • Pollack, Shirley;
    • Hadash, Amir;
    • Eytan, Danny;
    • Attias, Ori;
    • Halberthal, Michael;
    • Ben-Ari, Josef;
    • Bar-Joseph, Gad;
    • Zelikovic, Israel;
    • Mandel, Hanna;
    • Tal, Galit;
    • Magen, Daniella
    Publication type:
    Article
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