Works matching IS 21928312 AND DT 2021 AND VI 61 AND IP 1


Results: 12
    1

    Clinical utility of methionine restriction in adenosine kinase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 52, doi. 10.1002/jmd2.12238
    By:
    • Almuhsen, Najmah;
    • Guay, Simon‐pierre;
    • Lefrancois, Marie;
    • Gauvin, Cheryl;
    • Al Bahlani, AL Qasim;
    • Ahmed, Najma;
    • Saint‐Martin, Christine;
    • Gagnon, Tommy;
    • Waters, Paula;
    • Braverman, Nancy;
    • Buhas, D.
    Publication type:
    Article
    2

    Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 76, doi. 10.1002/jmd2.12237
    By:
    • Treacy, Eileen P.;
    • Vencken, Sebastian;
    • Bosch, Annet M.;
    • Gautschi, Matthias;
    • Rubio‐Gozalbo, Estela;
    • Dawson, Charlotte;
    • Nerney, Darragh;
    • Colhoun, Hugh Owen;
    • Shakerdi, Loai;
    • Pastores, Gregory M.;
    • O'Flaherty, Roisin;
    • Saldova, Radka
    Publication type:
    Article
    3
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    7

    Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII).

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 60, doi. 10.1002/jmd2.12232
    By:
    • Buch, Astrid Emilie;
    • Musumeci, Olimpia;
    • Wigley, Ralph;
    • Stemmerik, Mads Peter Godtfeldt;
    • Eisum, Anne‐Sofie Vibæk;
    • Madsen, Karen Lindhardt;
    • Preisler, Nicolai;
    • Hilton‐Jones, David;
    • Quinlivan, Ros;
    • Toscano, Antonio;
    • Vissing, John
    Publication type:
    Article
    8
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    10

    Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 12, doi. 10.1002/jmd2.12223
    By:
    • Hagemeijer, Marne C.;
    • Oussoren, Esmee;
    • Ruijter, George J. G.;
    • Onkenhout, Willem;
    • Huidekoper, Hidde H.;
    • Ebberink, Merel S.;
    • Waterham, Hans R.;
    • Ferdinandusse, Sacha;
    • de Vries, Maaike C.;
    • Huigen, Marleen C. D. G.;
    • Kluijtmans, Leo A. J.;
    • Coene, Karlien L. M.;
    • Blom, Henk J
    Publication type:
    Article
    11
    12

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 1, doi. 10.1002/jmd2.12142
    Publication type:
    Article