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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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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Academy of Medical Sciences
2012
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| 主題: | |
| オンライン･アクセス: | 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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