英语词汇“Hexosaminidase A and B Deficiency Disease”的意思、用法、释义、翻译、读音、例句、短语、词组-英汉翻译词典

《英文msh词典》Hexosaminidase A and B Deficiency Disease

[同义词] Hexosaminidase A and B Deficiency Disease

[主题词] Sandhoff Disease

[中文释义] 氨基己糖苷酶A和B缺乏症

[英文释义] An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE,but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay,hypotonia followed by spasticity,and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes,Textbook of Child Neurology,5th ed,p92)

单词	Hexosaminidase A and B Deficiency Disease
释义	Hexosaminidase A and B Deficiency Disease 《英文msh词典》Hexosaminidase A and B Deficiency Disease [同义词] Hexosaminidase A and B Deficiency Disease [主题词] Sandhoff Disease [中文释义] 氨基己糖苷酶A和B缺乏症 [英文释义] An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE,but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay,hypotonia followed by spasticity,and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes,Textbook of Child Neurology,5th ed,p92)
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