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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: 10.1038/s41430-018-0306-8 110
Cavallini, G., Modenini, F
C., Hajnal, A., Lynch, C
