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红细胞和成纤维细胞中缩醛磷脂和多不饱和脂肪酸（PUFA）的测定。

Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts.

作者信息

Dacremont G, Vincent G

机构信息

Department of Pediatrics, University Hospital Gent, Belgium.

出版信息

J Inherit Metab Dis. 1995;18 Suppl 1:84-9. doi: 10.1007/BF00711431.

DOI:10.1007/BF00711431
PMID:9053558
Abstract

The direct transesterification method of Lepage and Roy is described as used in our laboratory for the analysis of plasmalogens and polyunsaturated fatty acids in erythrocytes and cultured fibroblasts by gas chromatography. An overview is given of the plasmalogen ratios and docosahexaenoic acid concentrations from controls and patients with different peroxisomal disorders investigated in our laboratory.

摘要

莱佩奇和罗伊的直接酯交换法在我们实验室用于通过气相色谱分析红细胞和培养成纤维细胞中的缩醛磷脂和多不饱和脂肪酸。本文概述了我们实验室对不同过氧化物酶体疾病的对照者和患者的缩醛磷脂比率及二十二碳六烯酸浓度的研究情况。

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Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts.红细胞和成纤维细胞中缩醛磷脂和多不饱和脂肪酸（PUFA）的测定。
J Inherit Metab Dis. 1995;18 Suppl 1:84-9. doi: 10.1007/BF00711431.
2
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J Inherit Metab Dis. 1995;18 Suppl 1:61-75. doi: 10.1007/BF00711429.
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Acta Paediatr. 1995 May;84(5):516-20. doi: 10.1111/j.1651-2227.1995.tb13685.x.
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本文引用的文献

1
Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease: therapeutic implications.过氧化物酶体病中发育中的人类大脑、红细胞和血浆中的多不饱和脂肪酸：治疗意义。
J Inherit Metab Dis. 1995;18 Suppl 1:61-75. doi: 10.1007/BF00711429.
2
Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study.过氧化物酶体疾病患者的血液多不饱和脂肪酸。一项多中心研究。
Lipids. 1994 Apr;29(4):273-80. doi: 10.1007/BF02536332.
3
Polyunsaturated fatty acids in the developing human brain, red cells and plasma: influence of nutrition and peroxisomal disease.
Rapid identification of plasmalogen molecular species using targeted multiplexed selected reaction monitoring mass spectrometry.
使用靶向多重选择反应监测质谱法快速鉴定缩醛磷脂分子种类
J Mass Spectrom Adv Clin Lab. 2021 Oct 7;22:26-33. doi: 10.1016/j.jmsacl.2021.09.004. eCollection 2021 Nov.
4
Exome sequencing identifies mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.外显子组测序鉴定出三例视网膜色素变性和听力障碍患者的基因突变。
Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020.
5
Expanding the spectrum of mutations and novel insights into disease mechanisms.拓展突变谱并对疾病机制有新的认识。
Mol Genet Metab Rep. 2018 Jul 20;16:46-51. doi: 10.1016/j.ymgmr.2018.07.003. eCollection 2018 Sep.
6
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.评估 C26:0-溶血磷脂酰胆碱和 C26:0-肉碱作为泽尔韦格综合征谱系障碍的诊断标志物。
J Inherit Metab Dis. 2017 Nov;40(6):875-881. doi: 10.1007/s10545-017-0064-0. Epub 2017 Jul 4.
7
Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction.醚脂缺乏小鼠的肌肉力量减弱，同时神经肌肉接头的发育和功能也发生改变。
J Neurochem. 2017 Dec;143(5):569-583. doi: 10.1111/jnc.14082. Epub 2017 Sep 25.
8
Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.永生化人肝细胞（IHH）细胞系中的过氧化物酶体异常。
Histochem Cell Biol. 2017 Apr;147(4):537-541. doi: 10.1007/s00418-016-1532-6. Epub 2016 Dec 24.
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Cholic acid therapy in Zellweger spectrum disorders.胆汁酸疗法治疗泽尔韦格谱系障碍。
J Inherit Metab Dis. 2016 Nov;39(6):859-868. doi: 10.1007/s10545-016-9962-9. Epub 2016 Jul 28.
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World Rev Nutr Diet. 1994;75:70-8. doi: 10.1159/000423553.
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Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.人类烷基二羟基丙酮磷酸合酶缺乏症：一种新的过氧化物酶体疾病。
J Inherit Metab Dis. 1994;17(3):315-8. doi: 10.1007/BF00711817.
5
Postnatal diagnosis of peroxisomal disorders: a biochemical approach.过氧化物酶体疾病的产后诊断：一种生化方法。
Biochimie. 1993;75(3-4):269-79. doi: 10.1016/0300-9084(93)90087-9.
6
Direct transesterification of all classes of lipids in a one-step reaction.一步反应中所有类别的脂质直接进行酯交换反应。
J Lipid Res. 1986 Jan;27(1):114-20.
7
Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals.通过二甲基缩醛的气液色谱法对泽尔韦格综合征进行简易诊断。
J Lipid Res. 1986 Jul;27(7):786-91.
8
Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease.脑肝肾（泽尔韦格）综合征患者红细胞中缩醛磷脂含量的年龄相关差异：对该疾病产后检测的意义。
J Inherit Metab Dis. 1986;9(4):335-42. doi: 10.1007/BF01800482.
9
Polyunsaturated fatty acid changes suggesting a new enzymatic defect in Zellweger syndrome.多不饱和脂肪酸变化提示齐-韦二氏综合征存在一种新的酶缺陷。
Lipids. 1989 Apr;24(4):261-5. doi: 10.1007/BF02535160.
10
Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of delta 4 desaturation?过氧化物酶体疾病中二十二碳六烯酸的严重缺乏：Δ4 去饱和酶缺陷？
Neurology. 1990 Aug;40(8):1292-8. doi: 10.1212/wnl.40.8.1292.