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1)  hyperammoniemia
高氨血症
1.
Objective To explore the application value of the gas chromatography-mass spectrometry analysis(GC-MS)in the diagnosis of hyperammoniemia.
目的探讨气相色谱-质谱联用(GC-MS)分析方法在高氨血症病因诊断中的应用价值。
2)  hyperammonemia
高血氨症
3)  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。
4)  high amino acids
高氨基酸血症
1.
5 mmol/L)(control group),(2)high-concentration amino acids and low-concentration glucose(high amino acids(HA)group)and(3)vitamin E,high-concentration amino acids and low-concentration glucose(HAE group).
目的研究高氨基酸血症对肾小球系膜细胞结缔组织生长因子(connective tissue growth factor,CTGF)表达的影响,探讨氧化应激在其中的作用。
5)  Hyperhomocysteinemia
高半胱氨酸血症
1.
Objective The purpose of this study is to probe the effects of aerobic exercise on plasma homocysteine(Hcy) level and the capability of anti-oxidation in hyperhomocysteinemia rats, consequently to explore the theoretical basis for the prevention against hyperhomocysteinemia and atherosclerosis (AS).
目的:探讨有氧运动对高蛋氨酸饲料饮食大鼠血浆同型半胱氨酸(Hcy)水平和抗氧化应激能力的影响,为运动预防高半胱氨酸血症(HH)和动脉粥样硬化(AS)发生提供实验参考。
6)  Hyperglycinemia [,haipə,ɡlaisi:'ni:mjə]
高甘氨酸血症
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。
  
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