Wasant P,Kuptanon C,Vattanavicharn N,et al.Glutaric aciduria type 2,late onset type in Thai siblings with myopathy[J].Pediatr Neurol,2010,43(5):279-282.
[4]
Garg U,Dasouki M.Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry:Clinical and laboratory aspects[J].Clin Biochem,2006,39(4):315-332.
Chegary M,Brinke HT,Ruiter JP,et al.Mitochondrial long chain fatty acid-oxidation in m an and mouse[J].Biochim Biophys Acta,2009,1791(8):806-815.
[7]
Law LK,Tang NLS,Hui J,et al.A novel functional assay for smiultaneous determination of total fatty acid -oxidation flux and acylcarnitine profiling in human skin fibroblasts using 2H-31- palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry[J].Clin Chim Acta,2007,382(1):25- 30.
[8]
Wasant P,Kuptanon C,Vattanavicharn N,et al.Glutaric aciduria type 2,late onset type in Thai siblings with myopathy[J].Pediatr Neurol,2010,43(5):279-282.
[9]
Hirose S,Hamamoto K,Yoshida I,et al.Late2onset type Ⅱglutaria aciduria with massive pericardial effusion associated withsevere fatty liver[J].Acta Paediatric,2000,89:887-888.
[10]
Endo M,Hasegawa Y,Fukuda S.In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2[J].Journal of Chromatography B,2010,(878):1673-1676.
Vockley J.Glutaric aciduria type 2 and newborn screening:Commentary[J].Molecular Genetics and Metabolism,2008,93(7):5-6.
[13]
Mushimato Y,Hasegawa Y,Kobayashi H,et al.Enzymatic evaluation of glutaric acidem -ia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization tandem mass spectrometry(MS/MS)[J].J Chromatogrgraphy B Analyt Technol Biomed Life Sci,2009,877(25):2648- 2651.