Works matching DE "MAPLE syrup urine disease"


Results: 139
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    ENFERMEDAD DE LA ORINA CON OLOR A JARABE DE ARCE: REPORTE DE DOS CASOS.

    Published in:
    Peruvian Journal of Maternal Perinatal Research / Revista Peruana de Investigación Materno Perinatal, 2024, v. 13, n. 2, p. 39, doi. 10.33421/inmp.2024391
    By:
    • Mendoza Jamanca, Wendy Lizeth;
    • Rosa Dávila-Aliaga, Carmen;
    • Medina-Alva, Pilar;
    • Alvarado Merino, Rosa
    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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    Maple syrup urine disease: mechanisms and management.

    Published in:
    Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962
    By:
    • Blackburn, Patrick R.;
    • Gass, Jennifer M.;
    • Vairo, Filippo Pinto e.;
    • Farnham, Kristen M.;
    • Atwal, Herjot K.;
    • Macklin, Sarah;
    • Klee, Eric W.;
    • Atwal, Paldeep S.
    Publication type:
    Article
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    Successful living donor liver transplantation for classical maple syrup urine disease.

    Published in:
    Pediatric Transplantation, 2016, v. 20, n. 5, p. 707, doi. 10.1111/petr.12738
    By:
    • Yasui, Toshihiro;
    • Suzuki, Tatsuya;
    • Hara, Fujio;
    • Watanabe, Shunsuke;
    • Uga, Naoko;
    • Naoe, Atsuki;
    • Yoshikawa, Tetsushi;
    • Ito, Tetsuya;
    • Nakajima, Yoko;
    • Miura, Hiroki;
    • Sugioka, Atsushi;
    • Kato, Yutaro;
    • Tokoro, Takamasa;
    • Tanahashi, Yoshinao;
    • Kasahara, Mureo;
    • Fukuda, Akinari;
    • Kurahashi, Hiroki
    Publication type:
    Article
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    Issue Information.

    Published in:
    Pediatric Transplantation, 2016, v. 20, n. 3, p. 343, doi. 10.1111/petr.12599
    Publication type:
    Article
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    Successful living domino liver transplantation in a child with protein C deficiency.

    Published in:
    Pediatric Transplantation, 2015, v. 19, n. 3, p. E70, doi. 10.1111/petr.12446
    By:
    • Matsunami, Masatoshi;
    • Ishiguro, Akira;
    • Fukuda, Akinari;
    • Sasaki, Kengo;
    • Uchida, Hajime;
    • Shigeta, Takanobu;
    • Kanazawa, Hiroyuki;
    • Sakamoto, Seisuke;
    • Ohta, Motoki;
    • Nakadate, Hisaya;
    • Horikawa, Reiko;
    • Nakazawa, Atsuko;
    • Ishige, Mika;
    • Mizuta, Koichi;
    • Kasahara, Mureo
    Publication type:
    Article
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