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Displaying 5 results.
    • Journal article
    Characterization of trehalose-6-phosphate synthase and trehalose-6-phosphate phosphatase of Saccharomyces cerevisiae.
    Vandercammen, A. François, Jean[UCL] Hers, H G (1989) European journal of biochemistry / FEBS — Vol. 182, no. 3, p. 613-20 (1989)
    • Journal article
    The prenatal diagnosis of congenital disorders of glycosylation (CDG).
    Matthijs, Gert Schollen, Els Van Schaftingen, Emile[UCL] (2004) Prenatal diagnosis — Vol. 24, no. 2, p. 114-6 (2004)
    • Journal article
    On the mechanism by which a heat shock induces trehalose accumulation in Saccharomyces cerevisiae.
    Neves, M J François, Jean[UCL] (1992) The Biochemical journal — Vol. 288 ( Pt 3), p. 859-64 (1992)
    • Journal article
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
    Töpf, Ana Johnson, Katherine Bates, Adam Phillips, Lauren Chao, Katherine R England, Eleina M Laricchia, Kristen M Mullen, Thomas Valkanas, Elise Xu, Liwen Bertoli, Marta Blain, Alison Casasús, Ana B Duff, Jennifer Mroczek, Magdalena Specht, Sabine Lek, Monkol Ensini, Monica MacArthur, Daniel G MYO-SEQ consortium Straub, Volker Paquay, Stéphanie[UCL] Van den Bergh, Peter[UCL] Van Parys, Vinciane[UCL] (2020) Genetics in medicine — Vol. 22, no.9, p. 1478-1488 (2020)
    • Journal article
    A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
    Malfatti, Edoardo Nilsson, Johanna Hedberg-Oldfors, Carola Hernandez-Lain, Aurelio Michel, Fabrice Dominguez-Gonzalez, Cristina Viennet, Gabriel Akman, H Orhan Kornblum, Cornelia Van den Bergh, Peter[UCL] Romero, Norma B Engel, Andrew G DiMauro, Salvatore Oldfors, Anders (2014) Annals of Neurology — Vol. 76, no. 6, p. 891-898 (2014)