Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency
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Tài liệu tham khảo
Harpey, 1983, Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother, J Pediatr, 103, 394, 10.1016/S0022-3476(83)80410-7
Mantagos, 1979, Ethylmalonic-adipic aciduria: in vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases, J Clin Invest, 64, 1580, 10.1172/JCI109619
Tripp, 1981, Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy, N Engl J Med, 305, 385, 10.1056/NEJM198108133050707
Roe, 1986, Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes, J Pediatr, 108, 13, 10.1016/S0022-3476(86)80762-4
Howat, 1985, Defects of metabolism of fatty acids in the sudden infant death syndrome, Br Med J, 290, 1771, 10.1136/bmj.290.6484.1771
Vianey-Liaud, 1986, Long-chain acyl-CoA dehydrogenase deficiency and systemic carnitine deficiency: differential diagnosis in fibroblast culture by l-carnitineaddition, 60
Chalmers, 1986, Biochemical studies on cultured skin fibroblasts from a baby with longchain acyl-CoA dehydrogenase deficiency presenting as sudden neonatal death, 61
Duran, 1983, The analysis of plasma and urinary organic acids during prolonged fasting differentiates between systemic carnitine deficiency and a defect of fatty acid oxidation, J Inher Metab Dis, 6, 121, 10.1007/BF01810357
Harpey, 1986, Fenofibrate and trimetazidine for riboflavin-unresponsive glutaric aciduria type II, 56
