Engelsk ordbok



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Engelsk substantiv: inborn error of metabolism

1. inborn error of metabolism (om tilstand) any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism


Mindre spesifikke uttrykkcongenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, metabolic disorder


Mere spesifikke uttrykkgalactosemia, lysinemia, Niemann-Pick disease, phenylketonuria, PKU









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