Works matching IS 01418955 AND DT 2022 AND VI 45

Results: 121
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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
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    Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 952, doi. 10.1002/jimd.12528
    By:
    • van Vliet, Kimber;
    • van Ginkel, Willem G.;
    • Jahja, Rianne;
    • Daly, Anne;
    • MacDonald, Anita;
    • Santra, Saikat;
    • De Laet, Corinne;
    • Goyens, Philippe J.;
    • Vara, Roshni;
    • Rahman, Yusof;
    • Cassiman, David;
    • Eyskens, Francois;
    • Timmer, Corrie;
    • Mumford, Nicky;
    • Gissen, Paul;
    • Bierau, Jörgen;
    • van Hasselt, Peter M.;
    • Wilcox, Gisela;
    • Morris, Andrew A. M.;
    • Jameson, Elisabeth A.
    Publication type:
    Article
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    ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527
    By:
    • Albokhari, Daniah;
    • Ng, Bobby G.;
    • Guberinic, Alis;
    • Daniel, Earnest James Paul;
    • Engelhardt, Nicole M.;
    • Barone, Rita;
    • Fiumara, Agata;
    • Garavelli, Livia;
    • Trimarchi, Gabriele;
    • Wolfe, Lynne;
    • Raymond, Kimiyo M.;
    • Morava, Eva;
    • He, Miao;
    • Freeze, Hudson H.;
    • Lam, Christina;
    • Edmondson, Andrew C.
    Publication type:
    Article
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    A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 996, doi. 10.1002/jimd.12526
    By:
    • Ganapathi, Mythily;
    • Friocourt, Gaelle;
    • Gueguen, Naig;
    • Friederich, Marisa W.;
    • Le Gac, Gerald;
    • Okur, Volkan;
    • Loaëc, Nadège;
    • Ludwig, Thomas;
    • Ka, Chandran;
    • Tanji, Kurenai;
    • Marcorelles, Pascale;
    • Theodorou, Evangelos;
    • Lignelli‐Dipple, Angela;
    • Voisset, Cécile;
    • Walker, Melissa A.;
    • Briere, Lauren C.;
    • Bourhis, Amélie;
    • Blondel, Marc;
    • LeDuc, Charles;
    • Hagen, Jacob
    Publication type:
    Article
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    Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 937, doi. 10.1002/jimd.12525
    By:
    • Marelli, Cecilia;
    • Fouilhoux, Alain;
    • Benoist, Jean‐Francois;
    • De Lonlay, Pascale;
    • Guffon‐Fouilhoux, Nathalie;
    • Brassier, Anais;
    • Cano, Aline;
    • Chabrol, Brigitte;
    • Pennisi, Alessandra;
    • Schiff, Manuel;
    • Acquaviva, Cecile;
    • Murphy, Elaine;
    • Servais, Aude;
    • Lachmann, Robin
    Publication type:
    Article
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    Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
    By:
    • Montano, Carolina;
    • Cassini, Thomas;
    • Ziegler, Shira G.;
    • Boehm, Manfred;
    • Nicoli, Elena‐Raluca;
    • Mindell, Joseph A.;
    • Soldatos, Ariane G.;
    • Manoli, Irini;
    • Wolfe, Lynne;
    • Macnamara, Ellen F.;
    • Malicdan, May Christine V.;
    • Adams, David R.;
    • Tifft, Cynthia J.;
    • Toro, Camilo;
    • Gahl, William A.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 1, doi. 10.1002/jimd.12399
    Publication type:
    Article
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    Abstracts.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, p. 1, doi. 10.1002/jimd.12536
    Publication type:
    Article
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    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