1Watson MS, Mann MY, Lloyd-puryear MA, et al. Newborn screen- ing:Toward a uniform screening panel and system-executive sum- mary [ J ]. Pediatrics,2006,117 (5) : S296 - S307. 被引量:1
2Leonard JV, Morris AA. Inborn errors of metabolism around time of birth[J]. Lancet,2000,365 (9229) :583 -587. 被引量:1
3Puffenberger EG. Genetic heritage of the old order mennonites of southeastern Pennsylvania [ J ]. Am J Med Genet C Semin Med Genet,2003,121:18 -31. 被引量:1
4Millington DS, Kodo N, Norwood DL, et al. Tandem mass spectrom- etry:A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism [ J ]. J Inherit Metab Dis,1990,13(3) :321 -324. 被引量:1
5Yang Y, Sun F, Song J, et al. Clinical and biochemical studies on Chinese patients with methylmalonic aciduria[ J]. J Child Neurol, 2006,21 : 1020 - 1024. 被引量:1
6Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidufias [ J ]. J Inherit Metab Dis, 2008,31:350 -360. 被引量:1
7Shigematus Y, Hata I ,Tajima G. Useful second-tier tests in expand- ed newborn screening of isonaleric academia and methylmalonic aci- duria [ J ]. J Inherit Metab Dis,2010,33 ( Suppl 2 ) : S283 - S288. 被引量:1
8Menkes JH, Hurst PL, Craig JM. A new syndrome:progressive fa- milial infantile cerebral dysfunction associated with an unusual uri- nary substance [ J ]. Pediatrics, 1954,14:462 - 467. 被引量:1
9Peinemann F,Danner DJ. Maple syrup urine disease 1954 to 1993 [J]. J Inherit Metab Dis,1994,17:3 - 15. 被引量:1
10Zinnanti WJ, Lazovie J, Griffin K, et al. Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [ J ]. Brain,2009,132:903 - 918. 被引量:1