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连锁群 相关科技名词
- 恶性高苯丙氨酸血症malignant hyperphenylalaninemia
- 二氢蝶啶还原酶缺乏型dihydropteridine reductase defi- cient form;DHPR deficient form
- 鸟苷三磷酸环水解酶缺乏型guanosine triphosphate cyclohydro- lase deficient form
- 6-丙酮酰四氢蝶呤合成酶缺乏型6-pyruvoyl tetrahydropterin synthase deficient form
- 高酪氨酸血症hypertyrosinemia
- 组氨酸血症histidinemia
- 氨酰基脯氨酸二肽酶缺乏症prolidase deficiency
- 同型胱氨酸尿症homocystinuria
- 支链氨基酸代谢病disorder of branched chain amino- acid metabolism
- 枫糖尿症maple syrup urine disease
- 肌氨酸血症sarcosinemia
- 先天性高氨血症congenital hyperammonemia
- 尿素循环障碍urea cycle disorder
- 鸟氨酸氨甲酰转移酶缺乏症ornithine transcarbamoylase defi- ciency;OTC deficiency
- 氨甲酰磷酸合成酶缺乏症carbamyl phosphate synthetase deficiency;CPD
- 精氨基琥珀酸合成酶缺乏症argininosuccinic acid synthetase deficiency
- 精氨基琥珀酸酶缺乏症argininosuccinase deficiency
- 精氨酸酶缺乏症arginase deficiency
- 全氨基酸尿症generalized aminoaciduria
- 有机酸代谢病disorder of organic acid metabo- lism
- 有机酸血症organic acidemia
- 有机酸尿症organic aciduria
- 甲基丙二酸尿症methylmalonic aciduria
- 尿黑酸尿症alcaptonuria
- 莱施-奈恩综合征Lesch-Nyhan syndrome
- 腺苷脱氨酶缺乏症adenosine deaminase deficiency;ADA deficiency
- 家族性复合高脂血症familial combined hyperlipidemia
- 家族性高脂血症Ⅲ型familial hyperlipidemia type Ⅲ
- 家族性高胆固醇血症familial hypercholesterolemia
- 卟啉病porphyria
- 急性间歇性卟啉病acute intermittent porphyria
- 过氧化物酶体病peroxisomal disease
- 门克斯病Menkes disease
- 肝豆状核变性hepatolenticular degeneration;Wilson disease
- 脑肝肾综合征cerebrohepatorenal syndrome;Zellweger syndrome
- 肾上腺脑白质营养不良adrenoleukodystrophy;Addison-Schilder disease
- 肾上腺脊髓神经病adrenomyeloneuropathy
- 无过氧化氢酶血症acatalasemia
- 植烷酸贮积症Refsum disease
- 溶酶体贮积症lysosomal storage disease