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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4235665/
https://ncbi.nlm.nih.gov/pubmed/25419514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.03.004
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