Sep 2026
Ketone metabolism defects in childhood: a spectrum of overlapping presentations and clinical features
HMGCS2 deficiency, BKTD, and SCOT deficiency show overlapping features but can be distinguished by ketone levels, glucose patterns, and acylcarnitine profiles.
Burcu Koseci, Ezgi Burgaç, Ahmet Yöntem et al.
· Journal of Pediatric Endocri... · 0 citations