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

作者信息

Harpey J P, Charpentier C, Coudé M, Divry P, Paturneau-Jouas M

出版信息

J Pediatr. 1987 Jun;110(6):881-4. doi: 10.1016/s0022-3476(87)80401-8.

DOI:10.1016/s0022-3476(87)80401-8
PMID:3585604
Abstract
摘要

相似文献

1
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.婴儿猝死综合征与多种酰基辅酶A脱氢酶缺乏症、乙基丙二酸-己二酸尿症或全身性肉碱缺乏症。
J Pediatr. 1987 Jun;110(6):881-4. doi: 10.1016/s0022-3476(87)80401-8.
2
Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.多种酰基辅酶A脱氢酶缺乏症（戊二酸尿症II型和乙基丙二酸 - 己二酸尿症）中的电子传递黄素蛋白缺乏症。
J Inherit Metab Dis. 1984;7 Suppl 2:99-100. doi: 10.1007/978-94-009-5612-4_24.
3
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.一名患有乙基丙二酸尿症和乙基丙二酸血症的儿童出现进行性致命性全血细胞减少、精神运动发育迟缓及肌肉肉碱缺乏。
J Inherit Metab Dis. 1990;13(3):337-40. doi: 10.1007/BF01799389.
4
Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.多种酰基辅酶A脱氢酶缺乏症：通过对一张12岁新生儿筛查卡片进行酰基肉碱分析来诊断
J Pediatr. 1999 Jun;134(6):764-6. doi: 10.1016/s0022-3476(99)70295-7.
5
Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.乙基丙二酸/己二酸尿症：口服中链甘油三酯、肉碱和甘氨酸对有机酸、酰基肉碱和酰基甘氨酸尿排泄的影响。
Pediatr Res. 1991 Sep;30(3):216-21. doi: 10.1203/00006450-199109000-00002.
6
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).补充左旋肉碱对一名轻度多种酰基辅酶A脱氢酶缺乏症（乙基丙二酸 - 己二酸尿症）患者可能产生的有害影响。
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Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.婴儿猝死综合征与脂肪酸β氧化的遗传性疾病
Biol Neonate. 1990;58 Suppl 1:70-80. doi: 10.1159/000243301.
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Investigation of inborn errors of metabolism in unexpected infant deaths.意外婴儿死亡中先天性代谢缺陷的调查。
Lancet. 1988 Jul 2;2(8601):29-31. doi: 10.1016/s0140-6736(88)92955-8.
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Post-mortem recognition of inherited metabolic disorders from specific acylcarnitines in tissue in cases of sudden infant death.在婴儿猝死病例中，通过组织中特定酰基肉碱对遗传性代谢紊乱进行尸检诊断。
Lancet. 1987 Feb 28;1(8531):512. doi: 10.1016/s0140-6736(87)92126-x.
10
Medium chain acyl-coenzyme A dehydrogenase deficiency.
N J Med. 1992 Sep;89(9):675-8.

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Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.
3
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
脂肪酸氧化缺陷的识别与管理：107例患者系列研究
J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210.
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Abnormal expression of glucose-6-phosphatase in preterm infants.葡萄糖-6-磷酸酶在早产儿中的异常表达。
Arch Dis Child. 1993 Feb;68(2):202-4. doi: 10.1136/adc.68.2.202.
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Sudden infant death and multiple acyl-CoA dehydrogenation disorders.
Eur J Pediatr. 1995 May;154(5):421-2. doi: 10.1007/BF02072123.
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Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.瑞氏综合征及类瑞氏代谢与毒理学综合征之间的生化关系。
Med Toxicol Adverse Drug Exp. 1989 Jul-Aug;4(4):272-94. doi: 10.1007/BF03259913.
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Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.一名患有乳酸性酸中毒和意外猝死患者的丙酮酸脱氢酶α和β亚基缺乏症
Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401.
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Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.房水和血浆中的有机酸：婴儿尸检研究与酶病诊断
J Inherit Metab Dis. 1991;14(5):668-73. doi: 10.1007/BF01799931.