
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method
Keywords: CTX, cerebrotendinous xanthomatosis; ESI-MS/MS, liquid chromatography-electrospray ionization-tandem MS; DBS, dried bloodspots; 7α12αC4, 7α,12α-dihydroxy-4-cholesten-3-one; CDCA, chenodeoxycholic acid; GC–MS, gas chromatography–mass spectrometry; IRB, ins