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Article

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

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2023

Liammongkolkul Somporn, Boonyawat Boonchai, Vijarnsorn Chodchanok, Tim-Aroon Thipwimol, Wasant Pornswan, Vatanavicharn Nithiwat

Abstract excerpt

BACKGROUND: Primary carnitine deficiency (PCD) is screened by expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) that can detect both affected neonates and mothers. This study aimed to delineate the clinical, biochemical, and molecular findings of Thai PCD patients. METHODS: Expanded NBS using MS/MS was implemented in Bangkok and 146,757 neonates were screened between 2014 and 2018. PCD was...

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PMID: 36321377
DOI: 10.1111/ped.15404

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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