Scholte, H.R.

patient mutation ficiency acad 9 activity mitochondrial analysis i activity protein genet malonic malonyl-coa decarboxylase decarboxylase malonic aciduria malonyl-coa fi broblasts flavin aciduria region broblast wild-type acad 9 chromosome brain disease wild-type ribo flavin mlycd identi fied assembly defect function oxidative chromosome 16 phosphorylation mlycd gene genetic study subunit ribo flavin treatment identi scholte acad 9. diagnosis carnitine control family institute hydrogen bond malonyl-coa decarboxylase activity structure transduction creatinine uniparental disomy c .1405c mutation exercise intolerance substitution parent cause university i assembly enzyme acad 9 mutation model metab arginine author netherland uniparental chain firmed 210–219 downloaded marker sequence i function disorder isodisomy muscle centre acad 9 gene