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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Detaylı Bibliyografya
Asıl Yazarlar: Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Academy of Medical Sciences 2012
Konular:
Case Report
Online Erişim: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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