一例钠牛磺胆酸共转运多肽缺陷病患儿临床和遗传学分析
Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency
DOI: 10.7499/j.issn.1008-8830.2018.04.005
李华,
邱建武,
林桂枝,
邓梅,
林伟霞,
程映,
宋元宗
LI Hua,
QIU Jian-Wu,
LIN Gui-Zhi,
DENG Mei,
LIN Wei-Xia,
CHENG Ying,
SONG Yuan-Zong
Keywords: NTCP缺陷病,SLC10A1基因,高胆汁酸血症,胆汁淤积,婴儿,
NTCP deficiency,SLC10A1 gene,Hypercholanemia,Cholestasis,Infant
Abstract:
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