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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Korean Academy of Medical Sciences 2012
Gaiak:
Case Report
Sarrera elektronikoa: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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