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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...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Korean Academy of Medical Sciences
2012
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| Témata: | |
| On-line přístup: | 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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