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Article

A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.

Journal of inherited metabolic disease - 1 Jan 2003

Lee J E, Yoon H R, Paik K H, Hwang S J, Shim J W, Chang Y S, Park W S, Strauss A W, Jin D K

Abstract excerpt

We report a Korean case, consistent with a biochemical diagnosis of trifunctional protein (TFP) deficiency, in which molecular diagnosis revealed a novel mutation in the alpha-subunit of TFP and the rare combination of two intergenic region (C/C and G/G) polymorphisms.

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Source

Identifiers

PMID: 12971428
DOI: 10.1023/a:1025119505982

Provenance

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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