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Citation Information: J Clin Invest. 1983;72(1):201-213. https://doi.org/10.1172/JCI110958.
Abstract
Hereditary fructose intolerance (HFI) is a metabolic disorder caused by enzymic deficiency of aldolase B, a genetically distinct cytosolic isoenzyme expressed exclusively in liver, kidney, and intestine. The molecular basis of this enzyme defect has been investigated in three affected individuals from a nonconsanguineous kindred, in whom fructose-l-phosphate aldolase activities in liver or intestinal biopsy samples were reduced to 2-6% of mean control values.
Authors
Timothy M. Cox, Martin W. O'Donnell, Michael Camilleri, Arthur H. Burghes
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