PENG Jing,WU Ling-Qian,ZHOU Ming-Xing et al. A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study[J]. CJCP, 2012, 14(11): 879-880.
PENG Jing,WU Ling-Qian,ZHOU Ming-Xing et al. A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study[J]. CJCP, 2012, 14(11): 879-880.
［1］FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. The molecular basis of malonyl-CoA decarboxylase deficiency［J］. Am J Hum Genet, 1999, 65(2): 318-326.
［2］Brown GK, Scholem RD, Bankier A, Danks DM. Malonyl coenzyme A decarboxylase deficiency［J］. J Inherit Metab Dis, 1984, 7(1): 21-26.
［3］Reszko AE, Kasumov T, Comte B, Pierce BA, David F, Bederman IR, et al. Assay of the concentration and 13C-isotopic enrichment of malonyl-coenzyme A by gas chromatography-mass spectrometry［J］. Anal Biochem, 2001, 298(1): 69-75.
［4］Saggerson D. Malonyl-CoA, a key signaling molecule in mammalian cells［J］. Annu Rev Nutr, 2008, 28: 253-272.
［5］Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, et al. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency［J］. J Inherit Metab Dis, 2007, 30(1): 23-28.
［6］Krishnamoorthy KS,Vianey-Sabin C, Shih VE. Malonic acid uria due to mitochondrial malonyl coenzyme A decarboxylase deficiency:a rare inborn error of metabolism［J］. J Inherit Metab Dis, 1999, 22(Suppl 1): 93.
［7］de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, et al. Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency［J］. Mol Genet Metab, 2006, 87(2): 102-106.
