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Items: 2

Select item 96762161.

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky

Mol Genet Metab Rep. 2022 Dec; 33: 100931. Published online 2022 Nov 16. doi: 10.1016/j.ymgmr.2022.100931

PMCID:: PMC9676216

Abstract Article PDF–3.3M

Select item 52230292.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne De Saint-Martin, Marie-Thérèse Abi Warde, Monique G.M. de Sain-van der Velde, Judith J.M. Jans, Jeanne Amiel, Ziga Avsec, Christian Mertes, Tobias B. Haack, Tim Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis-Flucklinger

Am J Hum Genet. 2017 Jan 5; 100(1): 151–159. Published online 2016 Dec 15. doi: 10.1016/j.ajhg.2016.11.014