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

doi:10.1016/j.ymgmr.2022.100931

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

Pediatric Genetics & Metabolism

Research output: Contribution to journal › Article › peer-review

Original language	English (US)
Journal	Molecular Genetics and Metabolism Reports
DOIs	https://doi.org/10.1016/j.ymgmr.2022.100931
State	Published - Dec 2022

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Priestley, J. R. C., Pace, L. M., Sen, K., Aggarwal, A., Alves, C. A. P. F., Campbell, I. M., Cuddapah, S. R., Engelhardt, N. M., Eskandar, M., García, P. C. J., Gropman, A., Helbig, I., Hong, X., Gowda, V. K., Lusk, L., Trapane, P., Srinivasan, V. M., Suwannarat, P., & Ganetzky, R. D. (2022). Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature. Molecular Genetics and Metabolism Reports. https://doi.org/10.1016/j.ymgmr.2022.100931

Priestley, JRC, Pace, LM, Sen, K, Aggarwal, A, Alves, CAPF, Campbell, IM, Cuddapah, SR, Engelhardt, NM, Eskandar, M, García, PCJ, Gropman, A, Helbig, I, Hong, X, Gowda, VK, Lusk, L, Trapane, P, Srinivasan, VM, Suwannarat, P & Ganetzky, RD 2022, 'Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature', Molecular Genetics and Metabolism Reports. https://doi.org/10.1016/j.ymgmr.2022.100931

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

author = "Priestley, {Jessica R.C.} and Pace, {Lisa M.} and Kuntal Sen and Anjali Aggarwal and Alves, {Cesar Augusto P.F.} and Campbell, {Ian M.} and Cuddapah, {Sanmati R.} and Engelhardt, {Nicole M.} and Marina Eskandar and Garc{\'i}a, {Paloma C. Jol{\'i}n} and Andrea Gropman and Ingo Helbig and Xinying Hong and Gowda, {Vykuntaraju K.} and Laina Lusk and Pamela Trapane and Srinivasan, {Varunvenkat M.} and Pim Suwannarat and Ganetzky, {Rebecca D.}",

year = "2022",

month = dec,

doi = "10.1016/j.ymgmr.2022.100931",

language = "English (US)",

journal = "Molecular Genetics and Metabolism Reports",

issn = "2214-4269",

publisher = "Elsevier BV",

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TY - JOUR

T1 - Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

AU - Priestley, Jessica R.C.

AU - Pace, Lisa M.

AU - Sen, Kuntal

AU - Aggarwal, Anjali

AU - Alves, Cesar Augusto P.F.

AU - Campbell, Ian M.

AU - Cuddapah, Sanmati R.

AU - Engelhardt, Nicole M.

AU - Eskandar, Marina

AU - García, Paloma C. Jolín

AU - Gropman, Andrea

AU - Helbig, Ingo

AU - Hong, Xinying

AU - Gowda, Vykuntaraju K.

AU - Lusk, Laina

AU - Trapane, Pamela

AU - Srinivasan, Varunvenkat M.

AU - Suwannarat, Pim

AU - Ganetzky, Rebecca D.

PY - 2022/12

Y1 - 2022/12

UR - http://dx.doi.org/10.1016/j.ymgmr.2022.100931

U2 - 10.1016/j.ymgmr.2022.100931

DO - 10.1016/j.ymgmr.2022.100931

M3 - Article

C2 - 36420423

SN - 2214-4269

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

ER -

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

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