Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency

The Journal of Pediatrics - Tập 110 Số 6 - Trang 881-884 - 1987
Jean‐Paul Harpey1, C. Charpentier1, Marie Coudé1, P. Divry1, Marion Paturneau-Jouas1
1Clinique de Pédiatrie, Génétique Médicale, Hôpital de la Saipêtrière,and Laboratoire de Biochimie, CHU Necker, Paris, France

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Tài liệu tham khảo

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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

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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

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