Lysinuric protein intolerance: an overlooked diagnosis

Lysinuric protein intolerance: an overlooked diagnosis

Abstract Background Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane of the lung, small intestine, and kidney due to mutations in the SLC7A7...

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Bibliographic Details
Main Authors: Asburce Olgac, Idil Yenicesu, Rıza Köksal Ozgul, Gürsel Biberoğlu, Leyla Tümer
Format: Article
Language:English
Published: SpringerOpen 2020-10-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Lysinuric protein intolerance
Short stature
Hemophagocytic lymphohistiocytosis
Online Access:http://link.springer.com/article/10.1186/s43042-020-00084-2

Internet

http://link.springer.com/article/10.1186/s43042-020-00084-2

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