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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2014
Ábhair:
Case Report
Rochtain Ar Líne: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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