
Keywords: پلیمورفیسم تک نوکلئوتیدی; Isobutyryl-CoA dehydrogenase deficiency; ACAD8; Newborn screening; 3D crystal structure; Valine catabolism; IBDHD; Isobutyryl-CoA dehydrogenase deficiency; NBS; Newborn screening; MS/MS; Tandem mass spectrometry; NGS; Next-generation sequencing; PCR; Poly