1) propionic acidemias
丙酸血症
1.
Methods Five patients with organic acidemias were screened by urine organic acid analysis(gas chromotography-mass spectrometry,GC/MS),3 cases of methylmalolic acidemias(MMA) and 2 cases of propionic acidemias(PA) were confirmed.
方法应用气相色谱-质谱联用仪(GC/MS)对5例病人的尿样本作有机酸分析,进行筛查诊断,对3例丙二酸血症(MMA)及2例丙酸血症(PA)作以确诊。
2) hyperphenylalaninemia
高苯丙氨酸血症
1.
Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients;
四氢生物蝶呤负荷试验在高苯丙氨酸血症鉴别诊断中的价值
2.
Objective To investigate the distribution character of the mutations of 6-pyruvoyl tetrahydropterin synthase (PTPS) gene and to provide effective basis for gene diagnosis of tetrahydrobiopterin deficiency (BH4D) in children with hyperphenylalaninemia.
方法应用PCR-序列分析法对5例疑似BH4D的高苯丙氨酸血症患儿及其父母进行PTPS基因突变检测;应用序列比对和突变蛋白结构分析推测检测到的新突变的性质,同时用人工引入酶切位点的酶切方法对正常人群进行新突变的筛查。
3.
Objective To explore clinical characteristics of phenylalanine hydroxylase(PAH) deficiency in differential diagnosis among hyperphenylalaninemia(HPA) patients and compare the responses to diet treatment in HPA patients.
目的探讨不同类型高苯丙氨酸血症(HPA)临床表型,了解HPA患者对低苯丙氨酸(Phe)饮食治疗的反应性。
3) methylmalonic acidemia
甲基丙二酸血症
1.
Progress in mechanisms of brain injury in methylmalonic acidemia;
甲基丙二酸血症脑损伤机制研究进展
2.
Progresses of diagnosis and therapy in methylmalonic acidemia;
甲基丙二酸血症诊治研究进展
4) Methylmalonic acidemias
甲基丙二酸血症
1.
Objective:To investigate the early diagnosis and therapy of methylmalonic acidemias.
目的:探讨甲基丙二酸血症的早期诊断及治疗干预方法。
6) hyper-beta-alaninemia
高β丙氨酸血症
补充资料：酸血症
酸血症
acidemia
血液pH值低于7.3的状态。一般临床表现出酸中毒的症状。除病因治疗外，一般口服或静脉注射碳酸氢钠等碱性药物。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条