Article

Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

2019-09-19

Abstract excerpt

<h4>ABSTRACT</h4> Refsum disease is an inborn error of metabolism that is characterised by a defect in peroxisomal α-oxidation of the branched-chain fatty acid phytanic acid. The disorder presents with late-onset progressive retinitis pigmentosa and polyneuropathy and can be diagnosed biochemically by elevated levels of phytanic acid in plasma and tissues of patients. To date, no cure exists for Refsum disease, b...

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Literature Corpus work: 12569fb2-64e4-54ba-a999-334eca6d8f12
DOI: 10.1101/776575

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