Adrian Avila

TL;DR: A method for the parallel analysis of multiple CpG sites in genomic DNA for their state of methylation and demonstrated this technique with a region from the promoter of the tumor suppressor gene p16, which is hypermethylated in many cancers.

TL;DR: Electroencephalography in G1D individuals revealed nutrition time-dependent seizure oscillations often associated with preserved volition despite electrographic generalization and uniform average oscillation duration and periodicity, suggesting increased facilitation of an underlying neural loop circuit.

TL;DR: In this article , the authors proposed a nearly direct pathway for metabolic substrate transfer to neural cells that complements the better characterized plasma to endothelium transfer, which was further substantiated by in vitro measurement of direct erythrocyte to endothelial cell glucose flux.

TL;DR: In this paper, a liquid chromatography-tandem mass spectrometric method was proposed for the simultaneous quantitative determination of the ketone body byproducts 3-hydroxypentanoic acid and 3-oxopentanonic acid in plasma.

TL;DR: In this paper , a 3 + 3 dose-finding approach was used to establish a maximum, potentially greater dose of triheptanoin for Glucose transporter type 1 deficiency encephalopathy (G1D).