患有类瑞氏综合征的双胞胎兄妹，伴有异常有机酸尿症、低血糖、腹泻和呕吐，与牙买加呕吐病极为相似。 - Suppr

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超能文献

Twin siblings with a Reye's-like syndrome associated with an abnormal organic aciduria, hypoglycemia, diarrhea, and vomiting with close similarities to Jamaican vomiting sickness.

作者信息

Chalmers R A, Lawson A M, Whitelaw A, Purkiss P

出版信息

Pediatr Res. 1980 Oct;14(10):1097-1103. doi: 10.1203/00006450-198010000-00002.

DOI:10.1203/00006450-198010000-00002

PMID:7008010

Abstract

摘要

相似文献

Twin siblings with a Reye's-like syndrome associated with an abnormal organic aciduria, hypoglycemia, diarrhea, and vomiting with close similarities to Jamaican vomiting sickness.患有类瑞氏综合征的双胞胎兄妹，伴有异常有机酸尿症、低血糖、腹泻和呕吐，与牙买加呕吐病极为相似。

Pediatr Res. 1980 Oct;14(10):1097-1103. doi: 10.1203/00006450-198010000-00002.

Organic acids in Reye's like syndrome: similarities with Jamaican vomiting sickness.

Lancet. 1977 May 28;1(8022):1156-7. doi: 10.1016/s0140-6736(77)92418-7.

Identification of 5-hydroxyhexanoic acid in the urine of twin siblings with a Reye's-like syndrome associated with dicarboxylic aciduria and hypoglycaemia and with similarities to Jamaican vomiting sickness.

Biomed Mass Spectrom. 1979 Oct;6(10):444-6. doi: 10.1002/bms.1200061008.

Urinary organic acid profiles of Reye's syndrome patients.瑞氏综合征患者的尿有机酸谱。

Clin Chim Acta. 1977 Feb 1;74(3):247-54. doi: 10.1016/0009-8981(77)90291-1.

Mass spectrometric identification of abnormal aromatic compounds in the urine of a child with Reye's like syndrome.

Biomed Mass Spectrom. 1984 Mar;11(3):127-31. doi: 10.1002/bms.1200110307.

Dicarboxylic aciduria as an indicator of defective beta-oxidation in twin siblings with a vomiting sickness and hypoglycaemia similar to Jamaican vomiting sickness [proceedings].

Biochem Soc Trans. 1978;6(1):111-3. doi: 10.1042/bst0060111.

Identification of 5-hydroxyhexanoic acid in the urine of twin siblings with a syndrome having close similarities to Jamaican vomiting sickness [proceedings].

Biochem Soc Trans. 1978;6(1):108-10. doi: 10.1042/bst0060108.

Jamaican vomiting sickness. Biochemical investigation of two cases.

N Engl J Med. 1976 Aug 26;295(9):461-7. doi: 10.1056/NEJM197608262950901.

Jamaican vomiting sickness and Reye's syndrome.牙买加呕吐病和瑞氏综合征。

N Engl J Med. 1976 Dec 23;295(26):1481-2. doi: 10.1056/NEJM197612232952611.

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

J Inherit Metab Dis. 2017 Sep;40(5):751-752. doi: 10.1007/s10545-017-0041-7. Epub 2017 May 2.

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Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.中链酰基辅酶A脱氢酶基因第11外显子中的致病突变。

Am J Hum Genet. 1994 Jun;54(6):975-88.

New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders.线粒体脂肪酸氧化障碍的诊断与研究新进展

Eur J Pediatr. 1994;153(7 Suppl 1):S49-56. doi: 10.1007/BF02138778.

Screening for organic acidurias and amino acidopathies in newborns and children.新生儿及儿童有机酸血症和氨基酸代谢病的筛查。

J Inherit Metab Dis. 1980;3(2):27-43. doi: 10.1007/BF02312520.

Abnormal metabolism of valproic acid in fatal hepatic failure.丙戊酸在致命性肝衰竭中的代谢异常。

Eur J Pediatr. 1983 Oct;141(1):30-5. doi: 10.1007/BF00445664.

Current research in the organic acidurias.有机酸尿症的当前研究。

J Inherit Metab Dis. 1989;12(2):225-39. doi: 10.1007/BF01800728.

Medium chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症

Arch Dis Child. 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142.

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