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RNA sequencing To analyse the role of KAT6A in gene regulation in the developing brain, E12.5 dorsal telencephalon tissue was dissected and frozen, and E16.5 cortical neurons were isolated and total RNA was extracted using an RNeasy mini kit (QIAGEN) according to the manufacturers instructions including the optional DNase I digestion step

10 L-carnitine

Monitoring serum and red blood cell carnitine concentrations helps guide therapy, ensuring optimal levels without adverse effects

Evidence suggests that individuals with MCADD and similar FA metabolic disorders are at higher risk of developing chronic renal disease as they age, namely fatty infiltration of the kidney and tubulointerstitial fibrosis