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[DOI] [PMC free article] [PubMed] [Google Scholar] Patera AC, Drewry AM, Chang K, Beiter ER, Osborne D, Hotchkiss RS, 2016

J Biol Chem 282(8):52965301

Xiao HW, Cui M, Li Y, Dong JL, Zhang SQ, Zhu CC, et al

and the lethal neonatal one (MIM 608,836), with liver failure, hypoketotic hypoglycemia, cardiomyopathy with arrhythmias, seizures and coma after fasting or infection, in addition to dysmorphic features and/or organ malformations such as cystic renal dysplasia and brain dysgenesis [2, 10, 11,12,13]

[DOI] [PubMed] [Google Scholar] Arrieta A, Page TF, Veledar E, Nasir K, 2017

All patients were non-smokers (39)
