
家族性枫糖尿病1例临床诊治体会
A case report of maple syrup urine disease
[1]Chuang DT. Maple syrup urine disease: it has come a long way [J].J Pediatr, 1998, 132(3 pt 2):s17-23.
[2]Strauss K, Hartman T, Mazariegos G. Reply to:“Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease”[J]. Am J Transplant, 2006, 6(8):1983-1990.
[3]Dennis JA, Healy PJ. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles[J].Res Vet Sci, 1999, 67(1):1-6.
[4]Chuang JL, Cox RP, Chuang DT. E2 transacylase-deficient(type II)maple syrup urine disease:Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype [J]. J Clin Invest, 1997, 100(3):736-744.
[5]薛辛东.新生儿晚期代谢性酸中毒[M].//金汉珍,黄德珉,官希吉.实用新生儿学.第2版.北京:人民卫生出版社, 2003, 833-834.
[6]宋元宗,方素珍,封志纯,王自能.尿素酶预处理气相色谱质谱法在多种羧化酶缺陷病诊断治疗中的应用[J].中国当代儿科杂志,2004,6(2):128-129.
[7]Huang HP, Chu KL, Chen YH, Wei ML, Wu ST, Wang SF,et al. Tandem mass neonatal screening in Taiwan—report from one center[J]. J Formos Med Assoc, 2006, 105(11):882-886.
[8]谢利娟,朱建幸,朱晓东,李华军,韩连书,顾学范.经高危筛查发现的遗传性代谢病15例分析[J]. 中国当代儿科杂志, 2008, 10(1):31-34.
[9]Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification [J]. Mol Genet Metab, 2005, 84(4):313-316.