顾学范,韩连书,高晓岚,等.串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404.Gu XF,Han LS,Gao XL,et al.A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China[J].Chinese Journal of Pediatrics,2004,42(6):401-404.
[2]
中华人民共和国卫生部.新生儿疾病筛查技术规范[S].2010.Ministry of Health of People's Republic of China.Technical manual for neonatal screening[S].2010.
[3]
Mutlu-Albayrak H,Bene J,Oflaz MB,et al.Identification of SLC22A5 Gene mutation in a Family with Carnitine Uptake Defect[J].Case Rep Genet,2015,2015:259 627.
[4]
彭薇,张万巧,封志纯.气相色谱-质谱法检测遗传代谢性疾病高危患儿[J].临床儿科杂志,2014,32(9):888-891.Peng W,Zhang WQ,Feng ZC.Analysis of inherited metabolic disease in Beijing by gas chromatographymass spectrometry[J].Journal of Clinical Pediatrics,2014,32(9):888-891.
[5]
Vieria ME,Linbares MB.Developmental outcomes and quality of life in children born preterm at preschool-and school-age[J].J Pediatr(Rio J),2011,87(4):281-291.
[6]
Pampols T.Inherited metabolic rare disease[J].Adv Exp Med Biol,2010,686:397-431.
[7]
Mak CM,Lee HC,Chan AY,et al.Inborn errors of metabolism and expanded newborn screeing:review and update[J].Crit Rev Clin Lab Sci,2013,50(6):142-162.
王晓梅,姜春明,曲颖波.新生儿遗传代谢病的筛查诊断及治疗进展[J].国际遗传学杂志,2012,35(1):21-24.Wang XM,Jiang CM,Qu YB.Screening diagnosis and therapies of inborn errors of metabolism in newborn[J].International Journal of Genetics,2012,35(1):21-24.
[10]
胡海利,傅苏林,邵子瑜,等.新生儿疾病筛查现况调查及其相关因素研究[J].中国儿童保健杂志,2013,21(2):193-195.Hu HL,Fu SL,Shao ZY,et al.Recent advances in newborn diseases screening and related factors[J].Chinese Journal of Child Health Care,2013,21(2):193-195.