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Article

Citrin deficiency-The East-side story.

Journal of inherited metabolic disease - 1 Nov 2024

Häberle Johannes

Abstract excerpt

Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane. The condition was first described in Japan and other East Asian countries in patients who were thought to suffer from classical citrullinemia type 1, and was therefore classified as a urea cycle disorder. With an improved understanding of...

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Identifiers

PMID: 38994653
DOI: 10.1002/jimd.12772
PMCID: PMC11586598

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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