Article

Dried blood spot proteomics as a diagnostic framework for citrin deficiency

2026-05-28

Abstract excerpt

<h4>Background</h4> Citrin deficiency, caused by biallelic pathogenic variants in SLC25A13 , must be identified early to prevent serious complications such as hyperammonemia and liver failure. However, clinical diagnosis is often delayed due to its nonspecific presentation and limited sensitivity of amino acid–based newborn screening methods. Although genome-based evaluations are being investigated to address th...

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Literature Corpus work: 3b61a533-3743-5fe2-b24a-5ed27b6dea14
DOI: 10.64898/2026.05.26.26354012

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