| inborn error of metabolism |
any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
출처: wordnet.princeton.edu/perl/webwn
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| inborn error of metabolism |
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. ...
출처: en.wikipedia.org/wiki/Inborn_error_of_metabolism
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| inborn error of metabolism |
a disorder caused by an inherited defect in an enzyme pathway which affects the body's metabolism.
출처: www.uchicagokidshospital.org/online-library/conten...
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| inborn error of m. |
see under error.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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