DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
Kremer LS, Danhauser K, Herebian D. et al.
NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood.
Am J Hum Genet 2016;
99 (04) 894-902
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