Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by GC-MS in China
Tài liệu tham khảo
Nobeli, 2006, A bioinformatician's view of the metabolome, Bioessays, 28, 534, 10.1002/bies.20414
Hori, 2005, Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening, Brain Dev, 27, 39, 10.1016/j.braindev.2004.04.004
Luo, 2003, Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases, Zhonghua Er Ke Za Zhi, 41, 245
Kuhara, 2007, Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism, J Chromatogr B Analyt Technol Biomed Life Sci, 855, 42, 10.1016/j.jchromb.2007.03.031
Kuhara, 2005, Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism, Mass Spectrom Rev, 24, 814, 10.1002/mas.20038
Li, 2006, Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China, Birth Defects Res A Clin Mol Teratol, 76, 237, 10.1002/bdra.20248
Kuhara, 2002, Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry, J Chromatogr B Analyt Technol Biomed Life Sci, 781, 497, 10.1016/S1570-0232(02)00670-0
Xu, 2001, Screening for inborn errors of metabolism using gas chromatography-mass spectrometry, J Chromatogr B Biomed Sci Appl, 758, 75, 10.1016/S0378-4347(01)00042-1
Lu, 2005, Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency, J Hum Genet, 50, 338, 10.1007/s10038-005-0262-8
Gaber, 2007, Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients, Clin Lab, 53, 69
Ray, 2007, Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population, Epidemiology, 18, 362, 10.1097/01.ede.0000257063.77411.e9
Pettenuzzo, 2006, Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues, Int J Dev Neurosci, 24, 45, 10.1016/j.ijdevneu.2005.10.005
Saad, 2006, Lactate dehydrogenase activity is inhibited by methylmalonate in vitro, Neurochem Res, 31, 541, 10.1007/s11064-006-9054-6
Wajner, 2004, The role of oxidative damage in the neuropathology of organic acidurias: insights from animal studies, J Inherit Metab Dis, 27, 427, 10.1023/B:BOLI.0000037353.13085.e2
de Baulny, 2005, Methylmalonic and propionic acidaemias: management and outcome, J Inherit Metab Dis, 28, 415, 10.1007/s10545-005-7056-1