31422819 |
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Huigen, MCDG,
Ruiter, J,
Rousseau, J,
Brand-Arzamendi, K,
Ciapaite, J,
Verhoeven-Duif, NM,
Zaki, MS,
Kluijtmans, LAJ,
Jans, JJ,
Wanders, RJA,
Wintjes, LT,
Cao, F,
Jia, Z,
van der Lee, R,
Willemsen, MAAP,
Ross, CJ,
Wasserman, WW,
Drögemöller, BI,
Tarailo-Graovac, M,
Ramos, RJ,
Karbassi, F,
Skrypnyk, C,
Wang, Y,
van Karnebeek, CDM,
Issa, MY,
Wen, XY,
Gleeson, JG,
Rodenburg, RJ,
Koster, J,
Wevers, RA,
Campeau, PM,
Li, M,
Waterham, HR
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Am J Hum Genet |
2019 |