琥珀酸半醛脱氢酶缺乏症是一种疾病。
Succinic semialdehyde dehydrogenase deficiency is a disease.
本文报道了我国首例家族性脂蛋白脂酶缺乏症。
The first case of familial lipoprotein lipase (LPL) deficiency in China is re-ported.
这是一个X染色体缺陷导致的尿素循环酶缺乏症之一。
This is an X-linked deficiency of one of the enzymes in the urea cycle.
最终，豪斯推断病人有otd(氨酸转移酶缺乏症)。
Ultimately, House deduces that the patient has OTD (ornithine transcarbamylase deficiency).
目的对中国人非经典型21羟化酶缺乏症（21OHD）基因型进行研究。
Objective To investigate the genotype in Chinese patients with nonclassical 21 hydroxylase deficiency (NC 21OHD).
目的：阐明海南汉族、黎族人群中葡萄糖-6-磷酸脱氢酶缺乏症的分子基础。
Objective:To elucidate the molecular basis of G6PD deficiency in the Han and Li nationalities in Hainan, China.
阿尔法1 -抗胰蛋白酶缺乏症是一种遗传疾病传播有关的风险增加肺气肿和肝脏疾病。
Alpha 1-antitrypsin deficiency is a genetically transmitted disorder associated with an increased risk of emphysema and liver disease.
本文综述了近30余年来作者等对遗传性红细胞葡糖一6一磷酸脱氢酶缺乏症研究的概况。
Studies on glucose-6-phosphate dehydrogenase deficiency during the past 30 to 40 years are briefly reviewed.
方法用G6PD/6PGD比值法。 对7488例育龄人群进行了红细胞葡萄糖6-磷酸脱氢酶缺乏症临床检测。
Methods: Blood samples from 7488 persons at repreduction-age were examined on G6PD/6PGD hematology.
杂合子i型(定量)和大多数II型(定性)抗凝血酶缺乏症使静脉血栓栓塞(VTE)的风险显着增加，而纯合型突变会导致死亡。
Heterozygous type I (quantitative) and most type II (qualitative) antithrombin deficiencies highly increase the risk of venous thromboembolism (VTE), while homozygous mutations are lethal.
过碘酸-雪夫（PAS）染色时，门脉周围的红色玻璃样小球是α-1-抗胰蛋白酶缺乏症（pi-ZZ纯合子基因型患者）的特征表现。
The periportal red hyaline globules seen here with periodic acid-Schiff (PAS) stain are characteristic for alpha-1-antitrypsin deficiency (a person with homozygous pi-ZZ genotype).
所有患者均经尿蝶呤谱分析、BH4口服负荷试验及红细胞二氢蝶呤还原酶测定，确诊为BH4缺乏症。
All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridine reductase in RBC.
类似的，病症略轻为一点的代谢紊乱疾病是乳糖分解酶素缺乏症。
A similar, less severe, metabolic disorder is congenital lactase deficiency.
目的从红细胞膜蛋白磷酸化改变的角度探讨葡萄糖6磷酸脱氢酶(G6PD)缺乏症溶血的机制。
Objective To explore the hemolytic mechanism of glucose 6 phosphate dehydrogenase (G6PD) deficient erythrocytes in the view of phosphorylation of membrane protein.
葡萄糖- 6 -磷酸脱氢酶(G6PD)缺乏症是最常见的遗传性酶病，主要由于G6PD基因突变所致。
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent genetic enzymopathy, mainly caused by mutations of G6PD gene.
目的分析云南人群中葡萄糖6 磷酸脱氢酶（G6PD）缺乏症患者的基因突变类型及分布特点。
Objective To analyze the types and distribution of glucose-6-phosphate dehydrogenase(G6PD) gene mutations in Yunnan province.
目的分析云南人群中葡萄糖6 磷酸脱氢酶（G6PD）缺乏症患者的基因突变类型及分布特点。
Objective To analyze the types and distribution of glucose-6-phosphate dehydrogenase(G6PD) gene mutations in Yunnan province.
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