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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The Korean Academy of Medical Sciences 2012
विषय:
ऑनलाइन पहुंच: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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