Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 4

Results: 19
    1

    Corrigendum.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 862, doi. 10.1002/jimd.12535
    Publication type:
    Article
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    How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
    By:
    • Wortmann, Saskia B.;
    • Oud, Machteld M.;
    • Alders, Mariëlle;
    • Coene, Karlien L. M.;
    • van der Crabben, Saskia N.;
    • Feichtinger, René G.;
    • Garanto, Alejandro;
    • Hoischen, Alex;
    • Langeveld, Mirjam;
    • Lefeber, Dirk;
    • Mayr, Johannes A.;
    • Ockeloen, Charlotte W.;
    • Prokisch, Holger;
    • Rodenburg, Richard;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michel A. A. P.;
    • Wolf, Nicole I.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
    12

    Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
    By:
    • Yverneau, Mathilde;
    • Leroux, Stéphanie;
    • Imbard, Apolline;
    • Gleich, Florian;
    • Arion, Alina;
    • Moreau, Caroline;
    • Nassogne, Marie‐Cécile;
    • Szymanowski, Marie;
    • Tardieu, Marine;
    • Touati, Guy;
    • Bueno, María;
    • Chapman, Kimberly A.;
    • Chien, Yin‐Hsiu;
    • Huemer, Martina;
    • Ješina, Pavel;
    • Janssen, Mirian C. H.;
    • Kölker, Stefan;
    • Kožich, Viktor;
    • Lavigne, Christian;
    • Lund, Allan Meldgaard
    Publication type:
    Article
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    Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 804, doi. 10.1002/jimd.12502
    By:
    • Schwantje, Marit;
    • Fuchs, Sabine A.;
    • de Boer, Lonneke;
    • Bosch, Annet M.;
    • Cuppen, Inge;
    • Dekkers, Eugenie;
    • Derks, Terry G. J.;
    • Ferdinandusse, Sacha;
    • Ijlst, Lodewijk;
    • Houtkooper, Riekelt H.;
    • Maase, Rose;
    • van der Pol, W. Ludo;
    • de Vries, Maaike C.;
    • Verschoof‐Puite, Rendelien K.;
    • Wanders, Ronald J. A.;
    • Williams, Monique;
    • Wijburg, Frits;
    • Visser, Gepke
    Publication type:
    Article
    15

    Postauthorization safety study of betaine anhydrous.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
    By:
    • Mütze, Ulrike;
    • Gleich, Florian;
    • Garbade, Sven F.;
    • Plisson, Céline;
    • Aldámiz‐Echevarría, Luis;
    • Arrieta, Francisco;
    • Ballhausen, Diana;
    • Zielonka, Matthias;
    • Petković Ramadža, Danijela;
    • Baumgartner, Matthias R.;
    • Cano, Aline;
    • García Jiménez, María Concepción;
    • Dionisi‐Vici, Carlo;
    • Ješina, Pavel;
    • Blom, Henk J.;
    • Couce, Maria Luz;
    • Meavilla Olivas, Silvia;
    • Mention, Karine;
    • Mochel, Fanny;
    • Morris, Andrew A. M.
    Publication type:
    Article
    16

    Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 769, doi. 10.1002/jimd.12496
    By:
    • Abu Bakar, Nurulamin;
    • Ashikov, Angel;
    • Brum, Jaime Moritz;
    • Smeets, Roel;
    • Kersten, Marjan;
    • Huijben, Karin;
    • Keng, Wee Teik;
    • Speck‐Martins, Carlos Eduardo;
    • de Carvalho, Daniel Rocha;
    • de Rizzo, Isabela Maria Pinto Oliveira;
    • de Mello, Walquiria Domingues;
    • Heiner‐Fokkema, Rebecca;
    • Gorman, Kathleen;
    • Grunewald, Stephanie;
    • Michelakakis, Helen;
    • Moraitou, Marina;
    • Martinelli, Diego;
    • van Scherpenzeel, Monique;
    • Janssen, Mirian;
    • de Boer, Lonneke
    Publication type:
    Article
    17

    Cognitive dysfunction and white matter hyperintensities in Fabry disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 782, doi. 10.1002/jimd.12472
    By:
    • Murphy, Patrick;
    • Williams, Fay;
    • Davagnanam, Indran;
    • Chan, Edgar;
    • Murphy, Elaine;
    • Hughes, Derralynn;
    • Quattrocchi, Gabriella;
    • Werring, David J.;
    • Lachman, Robin H.;
    • Cipolotti, Lisa
    Publication type:
    Article
    18

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 1, doi. 10.1002/jimd.12398
    Publication type:
    Article
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