Lysinuric protein intolerance presenting with multiple fractures

Lysinuric protein intolerance presenting with multiple fractures

Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in SLC7A7, which encodes a component of the dibasic amino acid transporter found in intestinal and renal tubular cells. Patients typically present with vomiting, diarrhea, irritability, f...

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Bibliographic Details
Main Authors: Jennifer E. Posey, Lindsay C. Burrage, Marcus J. Miller, Pengfei Liu, Matthew T. Hardison, Sarah H. Elsea, Qin Sun, Yaping Yang, Alecia S. Willis, Alan E. Schlesinger, Carlos A. Bacino, Brendan H. Lee
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Lysinuric protein intolerance
Osteoporosis
Bone fractures
SLC7A7
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000275

Internet

http://www.sciencedirect.com/science/article/pii/S2214426914000275

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