<i>SLC7A7</i>基因復合雜合變異導致賴氨酸尿性蛋白耐受不良一例_Journal of Epilepsy

Authors：

任瀛 , 劉桂苓 ,  曹艷麗 ,  張洪偉

Corresponding?author：

曹艷麗, Email: caoyanli1299@163.com; 張洪偉, Email: zhw850510@163.com

Keywords：

賴氨酸尿性蛋白耐受不良; SLC7A7基因; 氨基酸轉運障礙性疾病

DOI：

10.7507/2096-0247.202509008

Video：

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Citation： 任瀛, 劉桂苓, 曹艷麗, 張洪偉. SLC7A7基因復合雜合變異導致賴氨酸尿性蛋白耐受不良一例. Journal of Epilepsy, 2026, 12(1): 82-86. doi: 10.7507/2096-0247.202509008 Copy

1.	Nunes V, Niinikoski H. Lysinuric Protein intolerance. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 2006: 2.
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5.	Lokuhewage C, Pathiraja H, Madawala P, et al. Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report. BMC pediatr, 2023, 23(1).
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1. Nunes V, Niinikoski H. Lysinuric Protein intolerance. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 2006: 2.
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5. Lokuhewage C, Pathiraja H, Madawala P, et al. Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report. BMC pediatr, 2023, 23(1).
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