Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 6

Results: 21
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    A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1106, doi. 10.1002/jimd.12556
    By:
    • Katler, Quinton S.;
    • Stepien, Karolina M.;
    • Paull, Nathan;
    • Patel, Sneh;
    • Adams, Michael;
    • Balci, Mehmet Cihan;
    • Berry, Gerard T.;
    • Bosch, Annet M.;
    • DeLaO, Angela;
    • Demirbas, Didem;
    • Edman, Julianna;
    • Ficicioglu, Can;
    • Goff, Melanie;
    • Hacker, Stephanie;
    • Knerr, Ina;
    • Lancaster, Kristen;
    • Li, Hong;
    • Mendelsohn, Bryce A.;
    • Nichols, Brandi;
    • de Rezende Pinto, Wladimir Bocca Vieira
    Publication type:
    Article
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    Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
    By:
    • Hermans, Merel E.;
    • van Weeghel, Michel;
    • Vaz, Frédéric M.;
    • Ferdinandusse, Sacha;
    • Hollak, Carla E. M.;
    • Huidekoper, Hidde H.;
    • Janssen, Mirian C. H.;
    • van Kuilenburg, André B. P.;
    • Pras‐Raves, Mia L.;
    • Wamelink, Mirjam M. C.;
    • Wanders, Ronald J. A.;
    • Welsink‐Karssies, Mendy M.;
    • Bosch, Annet M.
    Publication type:
    Article
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    Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1070, doi. 10.1002/jimd.12544
    By:
    • Grohmann‐Held, Karina;
    • Burgard, Peter;
    • Baerwald, Christoph G. O.;
    • Beblo, Skadi;
    • vom Dahl, Stephan;
    • Das, Anibh;
    • Dokoupil, Katharina;
    • Fleissner, Sandra;
    • Freisinger, Peter;
    • Heddrich‐Ellerbrok, Margret;
    • Jung, Alexandra;
    • Korpel, Vanessa;
    • Krämer, Johannes;
    • Lier, Dinah;
    • Maier, Esther M.;
    • Meyer, Uta;
    • Mühlhausen, Chris;
    • Newger, Martha;
    • Och, Ulrike;
    • Plöckinger, Ursula
    Publication type:
    Article
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    Erratum.

    Published in:
    2022
    Publication type:
    Correction Notice
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1, doi. 10.1002/jimd.12400
    Publication type:
    Article