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- W2170403910 abstract "Sjögren-Larsson syndrome is a metabolic disorder characterized by accumulation of long-chain fatty alcohols in plasma of patients due to mutations in the ALDH3A2 gene, that codes for a microsomal fatty aldehyde dehydrogenase (FALDH). Recent studies have demonstrated that FALDH is involved in the last step of the conversion of 22-hydroxy-C22:0 into the dicarboxylic acid of C22:0 (C22:0-DCA).FALDH activity was determined by incubating fibroblast homogenates with omega-hydroxy-C22:0 in the presence of NAD(+). Electrospray ionization mass spectrometry (ESI-MS) was used to quantify the amounts of C22:0-DCA produced.All SLS patients were deficient in C22:0-DCA productions with activities ranging from 3.2-26.3% of mean control.The new assay described in this paper has substantial advantages over previous assays, and allows for the easy, reliable and rapid diagnosis of SLS." @default.
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- W2170403910 date "2009-02-01" @default.
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- W2170403910 title "Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry" @default.
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- W2170403910 doi "https://doi.org/10.1016/j.jchromb.2008.12.040" @default.
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