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单词 Hyperlysinemias,Familial
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Hyperlysinemias,Familial


《英文msh词典》Hyperlysinemias,Familial
[入口词] Hyperlysinemias,Familial
[主题词] Hyperlysinemias
[英文释义] A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation,recurrent emesis,hypotonia,lethargy,diarrhea,and developmental delay. (From Menkes,Textbook of Child Neurology,5th ed,p56)
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