Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome.
作者信息
Howat A J, Bennett M J, Variend S, Shaw L
出版信息
Br Med J (Clin Res Ed). 1984 Mar 31;288(6422):976. doi: 10.1136/bmj.288.6422.976.
Abstract
摘要
相似文献
1
Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome.以婴儿猝死综合征形式表现的中链脂肪酰基辅酶A脱氢酶缺乏症。
Br Med J (Clin Res Ed). 1984 Mar 31;288(6422):976. doi: 10.1136/bmj.288.6422.976.
2
Medium-chain acylcoenzyme-A dehydrogenase deficiency. Not just another Reye syndrome.
Am J Forensic Med Pathol. 1993 Dec;14(4):313-8. doi: 10.1097/00000433-199312000-00008.
3
Medium chain acyl-coenzyme A dehydrogenase deficiency.
N J Med. 1992 Sep;89(9):675-8.
4
MCAD deficiency: what family physicians need to know.中链酰基辅酶A脱氢酶缺乏症：家庭医生需要了解的内容。
Am Fam Physician. 1989 May;39(5):116, 119.
5
[2 patients with Reye syndrome?].[2例瑞氏综合征患者？]
Ned Tijdschr Geneeskd. 1988 Oct 29;132(44):2025-8.
6
Acylcoenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in the liver.意外死亡且肝脏有脂肪变性的婴儿心脏组织中的酰基辅酶A脱氢酶缺乏症
Br Med J (Clin Res Ed). 1988 Jan 2;296(6614):11-2. doi: 10.1136/bmj.296.6614.11.
7
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.家族性雷氏样综合征：中链酰基辅酶A脱氢酶缺乏症的一种表现。
Pediatrics. 1987 Mar;79(3):382-5.
8
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
N Engl J Med. 1991 Jul 4;325(1):61-2. doi: 10.1056/NEJM199107043250113.
9
Medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症
Am Fam Physician. 1989 May;39(5):221-6.
10
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.中链酰基辅酶A脱氢酶缺乏症：与瑞氏综合征的电子显微镜鉴别诊断
Eur J Pediatr. 1990 Dec;150(2):111-4. doi: 10.1007/BF02072051.
引用本文的文献
1
Molecular autopsy for sudden death in Japan.日本猝死的分子尸检
J Toxicol Pathol. 2024 Jan;37(1):1-10. doi: 10.1293/tox.2023-0080. Epub 2023 Aug 30.
2
Earwax: A potentially useful medium to identify inborn errors of metabolism?耳垢：一种用于识别先天性代谢缺陷的潜在有用介质？
JIMD Rep. 2020 Feb 14;52(1):72-78. doi: 10.1002/jmd2.12102. eCollection 2020 Mar.
3
Fatty Liver and the Forensic Pathologist.脂肪肝与法医病理学家
Acad Forensic Pathol. 2018 Jun;8(2):296-310. doi: 10.1177/1925362118782061. Epub 2018 Jun 6.
4
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.中链酰基辅酶 A 脱氢酶缺乏症的临床表现：筛查人群成年后面临的挑战。
J Inherit Metab Dis. 2010 Oct;33(5):513-20. doi: 10.1007/s10545-010-9115-5. Epub 2010 Jun 8.
5
Mitochondrial fatty acid oxidation defects--remaining challenges.线粒体脂肪酸氧化缺陷——尚存的挑战
J Inherit Metab Dis. 2008 Oct;31(5):643-57. doi: 10.1007/s10545-008-0990-y. Epub 2008 Oct 7.
6
Sudden unexpected death in infancy (SUDI).婴儿猝死综合征（SUDI）。
J Clin Pathol. 2005 Jan;58(1):20-1. doi: 10.1136/jcp.2004.020677.
7
Metabolic cardiomyopathies.代谢性心肌病
Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x.
8
Sudden infant death and lysinuric protein intolerance.
Eur J Pediatr. 1996 Mar;155(3):256-7. doi: 10.1007/BF01953953.
9
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.
10
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.中链酰基辅酶A脱氢酶缺乏症与明显危及生命的事件及婴儿猝死综合征无关：苯丙酸负荷试验和DNA分析结果
Eur J Pediatr. 1994 May;153(5):352-7. doi: 10.1007/BF01956418.
本文引用的文献
1
Comparison of cytosolic and mitochondrial hepatic enzyme alterations in Reye's syndrome.瑞氏综合征中细胞溶质和线粒体肝酶改变的比较。
Pediatr Res. 1980 Nov;14(11):1216-21. doi: 10.1203/00006450-198011000-00013.
2
Glutaric aciduria Type II.II型戊二酸尿症
J Pediatr. 1980 Jun;96(6):1020-6. doi: 10.1016/s0022-3476(80)80629-9.
3
Encephalopathy of Reye's syndrome: a review of pathogenetic hypotheses.瑞氏综合征脑病：发病机制假说综述
Pediatrics. 1982 Jan;69(1):53-63.
4
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.非酮症低血糖和低肉碱水平儿童的中链酰基辅酶A脱氢酶缺乏症
Pediatr Res. 1983 Nov;17(11):877-84. doi: 10.1203/00006450-198311000-00008.
5
Evidence of duration and type of illness in children found unexpectedly dead.意外死亡儿童的疾病持续时间和类型的证据。
Arch Dis Child. 1976 Jun;51(6):424-9. doi: 10.1136/adc.51.6.424.
Zotero 插件