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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Detalhes bibliográficos
Main Authors: Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2012
Assuntos:
Case Report
Acesso em linha: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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