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Generalised dicarboxylic aciduria: a common finding in neonates.

作者信息

Downing M, Rose P, Bennett M J, Manning N J, Pollitt R J

机构信息

Department of Chemical Pathology, Children's Hospital, Sheffield, UK.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:321-4. doi: 10.1007/BF03335411.

DOI:10.1007/BF03335411
PMID:2512434
Abstract
摘要

相似文献

1
Generalised dicarboxylic aciduria: a common finding in neonates.
J Inherit Metab Dis. 1989;12 Suppl 2:321-4. doi: 10.1007/BF03335411.
2
Identification and quantitation of urinary dicarboxylic acids as their dicyclohexyl esters in disease states by gas chromatography mass spectrometry.通过气相色谱-质谱联用技术对疾病状态下尿中二羧酸二环己酯进行鉴定和定量分析。
Biomed Mass Spectrom. 1979 Dec;6(12):546-53. doi: 10.1002/bms.1200061203.
3
Gas chromatographic-mass spectrometric characterisation of unsaturated dicarboxylic acids in urine.
J Chromatogr. 1990 Dec 14;534:182-9. doi: 10.1016/s0378-4347(00)82160-x.
4
Specific and sensitive method for the determination of C6--C10 dicarboxylic acids in serum and urine by selected ion monitoring.通过选择离子监测测定血清和尿液中C6 - C10二元羧酸的特异性灵敏方法。
J Chromatogr. 1979 Mar 1;162(3):377-81. doi: 10.1016/s0378-4347(00)81523-6.
5
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.来自一名二羧酸尿症患者尿液中的亚油酰甘氨酸排泄情况。
Clin Chim Acta. 1976 Aug 2;70(3):417-25. doi: 10.1016/0009-8981(76)90355-7.
6
Gas chromatography-mass spectrometry of saturated and unsaturated dicarboxylic acids in urine.尿液中饱和与不饱和二元羧酸的气相色谱-质谱分析
J Chromatogr. 1980 Oct 31;199:181-9. doi: 10.1016/s0021-9673(01)91371-8.
7
Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.五例糖原贮积病患者的低酮尿性3-羟基二羧酸尿症
J Inherit Metab Dis. 1997 Jul;20(3):407-10. doi: 10.1023/a:1005354701187.
8
Dicarboxylic aciduria and medium chain triglyceride supplemented milk.二羧酸尿症与中链甘油三酯强化奶
Arch Dis Child. 1986 Jun;61(6):610-1. doi: 10.1136/adc.61.6.610.
9
[Aliphatic dicarboxylic acids in urine].
Lakartidningen. 1976 Feb 18;73(8):622-5.
10
3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase.三名患者出现3-羟基二羧酸和3-酮二羧酸尿症：3-酮酰基辅酶A硫解酶水平上脂肪酸氧化新缺陷的证据。
Clin Chem. 1993 May;39(5):897-901.

引用本文的文献

1
Dicarboxylic aciduria, significance and prognostic indications.二羧酸尿症，意义及预后指征
Eur J Pediatr. 1994 Dec;153(12):918. doi: 10.1007/BF01954747.
2
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.线粒体β-氧化紊乱：产前及产后早期诊断及其与瑞氏综合征和婴儿猝死的相关性
J Inherit Metab Dis. 1989;12 Suppl 1:215-30. doi: 10.1007/BF01799297.
3
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

本文引用的文献

1
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.一般型（中链）酰基辅酶A脱氢酶缺乏症（非酮症性二羧酸尿症）：三例患者23种具有生物学意义的有机酸的尿排泄定量模式
Clin Chim Acta. 1983 Aug 15;132(2):181-91. doi: 10.1016/0009-8981(83)90246-2.
2
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.中链酰基辅酶A脱氢酶的基因缺陷：在培养的皮肤成纤维细胞和外周血单核白细胞中的研究
Pediatr Res. 1985 Jul;19(7):671-6. doi: 10.1203/00006450-198507000-00007.
3
中链酰基辅酶A脱氢酶缺乏症新生儿期异常尿代谢物分析
J Inherit Metab Dis. 1990;13(5):707-15. doi: 10.1007/BF01799572.
Defects of metabolism of fatty acids in the sudden infant death syndrome.
婴儿猝死综合征中脂肪酸代谢缺陷
Br Med J (Clin Res Ed). 1985 Jun 15;290(6484):1771-3. doi: 10.1136/bmj.290.6484.1771.
4
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.婴儿猝死家庭中中链酰基辅酶A脱氢酶缺乏症的产前诊断
Lancet. 1987 Feb 21;1(8530):440-1. doi: 10.1016/s0140-6736(87)90135-8.
5
Sudden infant death and inherited disorders of fat oxidation.婴儿猝死与脂肪氧化遗传性疾病
Lancet. 1986 Nov 8;2(8515):1073-5.
6
Organic acids in urine from human newborns.
Clin Chem. 1976 Jan;22(1):49-52.
7
Urinary organic acids quantitated by age groups in a healthy pediatric population.
Clin Chem. 1977 Sep;23(9):1734-8.
8
Low molecular weight organic acids in the urine of the newborn.
Acta Paediatr Scand. 1977 Jan;66(1):85-9. doi: 10.1111/j.1651-2227.1977.tb07812.x.
9
Concentrations of organic acids in the urine of healthy newborn children.健康新生儿尿液中有机酸的浓度。
Ann Clin Biochem. 1978 Sep;15(5):245-9. doi: 10.1177/000456327801500159.