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Analysis of Lipid Storage Myopathy (ETFDH mutant or PNPLA2 mutant) by Direct Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry.

机译：通过直接基质辅助激光解吸/电离质谱法分析脂质储存肌病（ETFDH突变体或PNPLA2突变体）。

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Neutral lipid storage myopathies (NLSM) are characterized by the presence of triglyceride-containing cytoplasmic droplets in muscle tissues. Some patients with NLSM have been reported, although in most cases the biochemical defect is unclear. We investigated two rare NLSM biopsies (electron-transfer-flavoprotein dehydrogenase mutant or patatin-like phospholipase domain containing 2 mutant) using direct matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) and showed diagnostic metabolite change in NLSM muscle tissues compared to normal tissues (e.g. phosphatidylcholine (PC)). As far as we know, this is the first investigation for human NLSM using direct MALDI-MS, adding new finding on the abnormality metabolism of NLSM.

机译：中性脂质储存肌病（NLSM）的特征在于肌肉组织中存在含有甘油三酯的细胞质液滴。已经报道了一些NLSM患者，尽管在大多数情况下，生物化学缺陷尚不清楚。使用直接基质辅助激光解吸/电离质谱（MALDI-MS），研究了两种稀有NLSM活组织检查（含有2个突变体的含有2个突变体）的稀有NLSM活组织检查（含有2个突变体），并在比较的情况下显示了NLSM肌肉组织中的诊断代谢物变化到正常组织（例如磷脂酰胆碱（PC））。据我们所知，这是使用直接MALDI-MS对人NLSM的第一次调查，添加新发现NLSM的异常代谢。

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《ASMS Conference on Mass Spectrometry and Allied Topics》|2008年||共2页
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Nobuhiro Zaima; Yuki Sugiura; Aya Ohkuma; Stomi Okahashi; Saoru Noguchi; Ichizo Nishino; Tohru Ibi; Fumiko Ozawa; Ko Sahashi; Mitsutoshi Setou;
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1. In situ detection of the intermediates in the biosynthesis of surfactin, a lipoheptapeptide from Bacillus subtilis OKB 105, by whole-cell cell matrix-assisted laser desorption/ionization time-of-flight mass spectrometry in combination with mutant analysis [J] . Vater J, Wilde C, Kell H Rapid Communications in Mass Spectrometry: RCM . 2009,第10期

机译：通过全细胞细胞辅助激光解吸/电离飞行时间质谱与突变分析相结合，原位检测枯草芽孢杆菌OKB 105的表面活性素（一种枯草芽孢杆菌脂肽）的生物合成中的中间体
2. Polyacrylamide Gel Electrophoresis Coupled with Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry for tRNA Mutant Analysis [J] . Jing Wei, Cheng S. Lee Analytical chemistry . 1997,第23期

机译：聚丙烯酰胺凝胶电泳与基质辅助激光解吸/电离质谱联用，用于tRNA突变分析
3. Polyacrylamide gel electrophoresis coupled with matrix-assisted laser desorption/ionization mass spectrometry for tRNA mutant analysis [J] . Jing Wei, Cheng S. Lee Analytical Chemistry . 1997,第23期

机译：聚丙烯酰胺凝胶电泳结合基质辅助激光解吸/电离质谱用于tRNA突变体分析
4. Analysis of Lipid Storage Myopathy (ETFDH mutant or PNPLA2 mutant) by Direct Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry. [C] . Nobuhiro Zaima, Yuki Sugiura, Aya Ohkuma, ASMS Conference on Mass Spectrometry and Allied Topics . 2008

机译：通过直接基质辅助激光解吸/电离质谱法分析脂质储存肌病（ETFDH突变体或PNPLA2突变体）。
5. Analysis of lipids by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. [D] . Al-Saad, Khalid A. M. 2003

机译：通过基质辅助激光解吸/电离飞行时间质谱分析脂质。
6. 2-Fluoro modified nucleic acids: polymerase-directed synthesis properties and stability to analysis by matrix-assisted laser desorption/ionization mass spectrometry. [O] . T Ono, M Scalf, L M Smith 1997

机译：2-氟修饰核酸：聚合酶指导的合成性质和稳定性可通过基质辅助激光解吸/电离质谱法进行分析。
7. 2'-Fluoro modified nucleic acids: polymerase-directed synthesis, properties and stability to analysis by matrix-assisted laser desorption/ionization mass spectrometry. [O] . Ono, T, Scalf, M, Smith, L M 1997

机译：2'-氟修饰核酸：聚合酶指导的合成，性质和稳定性，可通过基质辅助激光解吸/电离质谱法进行分析。

Analysis of Lipid Storage Myopathy (ETFDH mutant or PNPLA2 mutant) by Direct Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry.

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