Article
Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.
The Malaysian journal of pathology - 1 Dec 2016
Habib A, Azize N A, Yakob Y, Md Yunus Z, Wee T K
Abstract excerpt
Lysinuric protein intolerance (LPI) is an inborn error of dibasic amino acid transport due to a defect in the dibasic amino acid transporter in the renal and intestine and has a heterogenous presentation. Three Malaysian patients with LPI were studied and their biochemical and molecular findings compared. There were differences and similarities in the biochemical and molecular findings. Molecular analysis of...
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