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Article

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.

Journal of inherited metabolic disease - 1 Jul 2021

Grünert Sarah C, Eckenweiler Matthias, Haas Dorothea, Lindner Martin, Tsiakas Konstantinos, Santer René, Tucci Sara, Spiekerkoetter Ute

Abstract excerpt

Peripheral neuropathy is a known irreversible long-term complication of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD), two inherited disorders of mitochondrial long-chain fatty acid oxidation. The underlying pathophysiology of neuropathy is still not fully understood. We report electrophysiological studies and neurological findings in a...

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Identifiers

PMID: 33638202
DOI: 10.1002/jimd.12372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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