| 单词 | Carbohydrate-Deficient Glycoprotein Syndrome |
| 释义 | Carbohydrate-Deficient Glycoprotein Syndrome《英文msh词典》Carbohydrate-Deficient Glycoprotein Syndrome [主题词] Carbohydrate-Deficient Glycoprotein Syndrome [同义词] Glycoprotein Syndrome,Carbohydrate-Deficient [入口词] Carbohydrate Deficient Glycoprotein Syndrome [入口词] Carbohydrate-Deficient Glycoprotein Syndromes [入口词] Glycoprotein Syndrome,Carbohydrate Deficient [入口词] Glycoprotein Syndromes,Carbohydrate-Deficient [入口词] Syndrome,Carbohydrate-Deficient Glycoprotein [入口词] Syndromes,Carbohydrate-Deficient Glycoprotein [中文释义] 碳水化合物缺乏糖蛋白综合征 [英文释义] An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation,seizures,cerebellar ataxia,and other symptoms which include growth retardation,retinitis pigmentosa,hypothyroidism,and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors. |
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