The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patie...

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Bibliografiske detaljer
Main Authors: Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Academy of Medical Sciences 2012
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3410248/
https://ncbi.nlm.nih.gov/pubmed/22876067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2012.27.8.961
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