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Terms for subject Genetics containing 缺乏 | all forms | in specified order only
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6-丙酮酰四氢蝶吟合成酶缺乏型6-pyruvoyl tetrahydropterin deficient form
丙酮酸羧化酶缺乏病Leigh necrotizing encephalomyelopathy
α-N-乙酰半乳糖胺酶缺乏α-N-acetylgalactosaminidase deficiency
乙酰氨基葡萄糖苷酶缺乏Sanfilippo syndrome B
乙酰肝素硫酸酯酶缺乏Sanfilippo syndrome A
乙酰辅酶 A 羧化酶缺乏症acetyl-CoA carboxylase deficiency
二氢蝶啶还原酶缺乏型dihydropteridine reductase deficient form (DHPR 缺乏型)
亚硫酸氧化酶缺乏症sulfite oxidase deficiency
伴有甘油激酶缺乏的肾上腺皮质发育不全adrenal cortical hypoplasia with glycerol kinase deficiency
假胆碱酯酶缺乏pseudocholinesterase deficiency
先天性白血球缺乏症congenital aleukia
凝血因子 VII 缺乏clotting factor VI deficiency
半乳糖激酶缺乏galactokinase deficiency
半乳糖表异构酶缺乏galactose epimerase deficiency
单纯性促黄体生成激素缺乏症isolated LH deficiency
因子缺乏factor deficiency
凝血因子 VII 缺乏症factor VII deficiency
凝血因子 XII 缺乏症factor XI deficiency
凝血因子 X缺乏症factor X deficiency
凝血因子 V缺乏症factor V deficiency
婴儿型遗传性粒细胞缺乏症infantile genetic agranulocytosis
家族性醛固酮缺乏症familial aldosterone deficiency
家族性高密度脂蛋白缺乏familial high density lipoprotein deficiency
尿卟啉原脱羟酶缺乏uroporphyrinogen decarboxylase deficiency
己糖激酶缺乏所致溶血性贫血hemolytic anemia due to hexokinase deficiency
α-干扰素缺乏症α-interferon deficiency
抗体缺乏综合征antibody deficiency syndrome
抗凝血酶 III 缺乏antithrombin III deficiency
α₁-抗胰蛋白酶缺乏α₁-antitrypsin deficiency
抗胰蛋白酶缺乏症antitrypsin deficiency
α₁-抗胰蛋白酶缺乏综合征α₁-antitrypsin deficiency syndrome
核苷磷酸化酶缺乏nucleoside phosphorylase deficiency
次黄嘌吟-鸟嘌吟磷酸核糖转移酶缺乏hypoxanthine-guanine phosphoribosyl transferase deficiency
毛发缺乏症hypotrichosis
氨基己糖苷 A 酶缺乏病Tay-Sachs disease
氨基己糖苷 A-B 酶缺乏症Sandhoff disease
β-氨基己糖苷酯酶缺乏β-hexosaminidase deficiency
氨甲酰基磷酸合成酶缺乏carbamoyl phosphate synthetase deficiency
生殖腺功能缺乏agonadia
生物素酰胺酶缺乏biotinidase deficiency
生长激素缺乏growth hormone deficiency
生长激素缺乏性侏儒Laron disease
甲状腺碘过氧化物酶缺乏thyroid iodine peroxidase deficiency
甲状腺素结合球蛋白缺乏TBG deficiency
甲状腺素-结合球蛋白缺乏症thyroxine-binding globulin deficiency
α-甲胎蛋白缺乏α-fetoprotein deficiency
白细胞介素2缺乏interleukin 2 deficiency
皮质激素传递蛋白缺乏transcortin deficiency
睾丸碳链酶缺乏deficiency of testicular desmolase
磷酸丙糖异构酶缺乏triosephosphate isomerase deficiency
磷酸果糖激酶缺乏所致溶血性贫血hemolytic anemia due to phosphofructokinase deficiency
磷酸激酶缺乏phosphokinase deficiency
磷酸甘油酸变位酶缺乏phosphoglycerate mutase deficiency
类固醇 5α-还原酶缺乏steroid 5a-reductase deficiency
粒性白细胞缺乏症agranulocytosis
精子缺乏症oligospermia
精氨琥珀酸酶缺乏argininosuccinase deficiency
精氨酸酶缺乏arginase deficiency
维生素缺乏病vitamin deficiency
G₆PD 缺乏G₆PD deficiency
ADA 缺乏所致免疫缺陷immunodeficiency due to ADA deficiency
内分泌缺乏症deficient symptom
缺乏的poor
3-羟乙酰辅酶A 脱氢酶缺乏3-hydroxyacyl-CoA dehydrogenase deficiency
17-羟化酶缺乏17-hydroxylase deficiency
21-羟化酶缺乏21-hydroxylase deficiency
11-β-羟化酶缺乏11-β-hydroxylase deficiency
3-β-羟类固醇脱氢酶缺乏3-β-hydroxysteroid dehydrogenase deficiency
肠道神经节细胞缺乏症intestinal aganglionosis
胆固醇酯缺乏病Norum disease
胰蛋白酶原缺乏trypsinogen deficiency
脑苷酯酶缺乏症Gaucher disease
腺昔脱氨酶缺乏adenosine deaminase deficiency (ADA 缺乏)
腺苷酸激酶缺乏症adenylate kinase deficiency
色氨酸加氧酶缺乏病Hartnup disease
营养元素缺乏症nutrient deficiency sympton
葡萄糖磷酸异构酶缺乏glucosephosphate isomerase deficiency
葡萄糖-6-磷酸脱氢酶缺乏症glucose-6-phosphate dehydrogenase deficiency (G₆PD 缺乏症)
C 蛋白缺乏protein C deficiency
S 蛋白质缺乏protein S deficiency
血铜蓝蛋白缺乏病Wilson disease
补体缺乏症complement deficiency
谷胱甘肽过氧化物酶缺乏glutathione peroxidase deficiency
谷胱甘肽还原酶缺乏glutathione reductase deficiency
转钻氨素 II 缺乏transcobalamin I deficiency
转铁蛋白缺乏症transferrin deficiency
辅酶 I-高铁血红蛋白还原酶缺乏症NADH-methemoglobin reductase deficiency
遗传性凝血酶缺乏症hereditary prothrombin deficiency
遗传性蛋白 C 缺乏症hereditary protein C deficiency
17-酮类固醇还原酶缺乏17-ketosteroid reductase deficiency
酰基辅酶 A 脱氢酶缺乏症acyl-CoA dehydrogenase deficiency
ATP 酶缺乏症ATPase deficiency
酸性酯酶缺乏症Wolman disease
酸性酯酶缺乏症acid lipase deficiency
铁传递蛋白缺乏症atransferrinemia
雄激素受体缺乏androgen receptor deficiency
髓过氧化物酶缺乏症myeloperoxidase deficiency
鸟氨酸转氨甲酰酶缺乏ornithine transcarbamylase deficiency (OTC 缺乏)

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