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An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.气相色谱-质谱联用技术与遗传性有机酸血症简介
Am J Hum Genet. 1980 Nov;32(6):781-92.
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[Comparative study of urine and serum organic acids in newborn infants using gas chromatography].[采用气相色谱法对新生儿尿液和血清有机酸的比较研究]
Union Med Can. 1974 Apr;103(4):678-85.
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Gas chromatography in diagnostic biochemistry of abnormal valine metabolism.气相色谱法在缬氨酸代谢异常诊断生物化学中的应用
Clin Chem. 1973 Sep;19(9):1040-4.
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Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.发展中国家氨基酸病和有机酸血症的诊断挑战：十二年经验。
Clin Biochem. 2013 Dec;46(18):1787-92. doi: 10.1016/j.clinbiochem.2013.08.009. Epub 2013 Aug 28.
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Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.采用液相色谱/串联质谱法酰基肉碱分析对巴西患者进行脂肪酸氧化缺陷和有机酸血症的选择性筛查。
Arch Med Res. 2018 Apr;49(3):205-212. doi: 10.1016/j.arcmed.2018.08.004. Epub 2018 Aug 16.
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On the screening, diagnosis and investigation of hereditary aminoacidopathies.关于遗传性氨基酸代谢病的筛查、诊断与研究
Clin Biochem. 1973 Sep;6(3):142-88. doi: 10.1016/s0009-9120(73)80025-6.
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Potassium ion ionization of desorbed species (K+IDS): a rapid method for the screening of urine for organic acidemias.解吸物种的钾离子电离（K + IDS）：一种用于筛查尿液中有机酸血症的快速方法。
Biomed Environ Mass Spectrom. 1988 Sep;17(3):221-8. doi: 10.1002/bms.1200170311.
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Gestational age-related reference values for amniotic fluid organic acids.羊水有机酸酸度与胎龄相关的参考值。
Prenat Diagn. 2010 Jan;30(1):43-8. doi: 10.1002/pd.2414.
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Diagnosis and therapy of organic acidurias.有机酸尿症的诊断与治疗
Padiatr Padol. 1993;28(1):3-8.
引用本文的文献
1
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.线粒体因子与VACTERL综合征相关先天性畸形
Mol Syndromol. 2013 Feb;4(1-2):63-73. doi: 10.1159/000346301.
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Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.有机酸血症中线粒体动态平衡的破坏：来自人体和动物研究的见解。
J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0.
本文引用的文献
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Molecular analysis by mass spectrometry.通过质谱法进行分子分析。
Science. 1979 Jul 13;205(4402):151-9. doi: 10.1126/science.205.4402.151.
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FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA.一名高甘氨酸血症患者的进一步观察
Pediatrics. 1964 Mar;33:403-12.
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Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I.特发性高甘氨酸血症和高甘氨酸尿症：一种新的氨基酸代谢紊乱。I.
Pediatrics. 1961 Apr;27:522-38.
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Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.多种酰基辅酶A脱氢酶缺乏症（II型戊二酸尿症）伴短暂性高肌氨酸血症和肌氨酸尿症；可能存在电子传递黄素蛋白的遗传性缺乏。
Pediatr Res. 1980 Jan;14(1):12-7. doi: 10.1203/00006450-198001000-00004.
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Antenatal diagnosis of glutaric acidemia.戊二酸血症的产前诊断
Am J Hum Genet. 1980 Sep;32(5):695-9.
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Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.甲基丙二酸血症。一种导致慢性代谢性酸中毒的先天性代谢缺陷。
Arch Dis Child. 1967 Oct;42(225):492-504. doi: 10.1136/adc.42.225.492.
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The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia.从异戊酸血症患者尿液中分离和鉴定N-异戊酰甘氨酸。
J Biol Chem. 1967 Jun 25;242(12):2966-72.
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A possible role for acetyl CoA in the control of gluconeogenesis.乙酰辅酶A在糖异生控制中的可能作用。
Adv Enzyme Regul. 1964;2:49-68. doi: 10.1016/s0065-2571(64)80005-4.
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Propionicacidemia, a new inborn error of metabolism.丙酸血症，一种新的先天性代谢缺陷病。
Pediatr Res. 1968 Nov;2(6):519-24. doi: 10.1203/00006450-196811000-00010.
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