Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

Somporn LiammongkolkulBoonchai BoonyawatChodchanok VijarnsornThipwimol Tim-AroonPornswan WasantNithiwat Vatanavicharn

Published in: Pediatrics international : official journal of the Japan Pediatric Society (2022)

PCD is a common inherited metabolic disorder (IMD) in Thailand. Our findings broaden the spectrum of SLC22A5 variants. The future national NBS program will shed more light on PCD and other IMDs in Thailand.

Keyphrases

quality improvement
copy number
current status
single molecule
replacement therapy
dna methylation