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Description
Individuals with ARTHS present with developmental delay, cognitive impairment (100% penetrance), delay or absence of speech (100%), facial dysmorphism (85%), feeding difficulties (78%), and neonatal hypotonia (76%) in a study of 76 individuals with KAT6A mutations (Kennedy et al, 2019)

Librowski, Tadeusz (2011): L-carnitinemetabolic functions and meaning in humans life

Conservazione Conservare in luogo fresco e asciutto, a temperatura non superiore ai 30C

15 EkbladM.KorkeilaJ.LehtonenL

Diet and fertility: a review
