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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
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is an inborn error of bile acid metabolism caused by mutations of SLC10A1 gene. This paper reports the clinical and genetic features of a patient with this disease. A 3.3-month-old male infant was referred to the hospital with the comp...
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| Publicado no: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
中国当代儿科杂志编辑部
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7390035/ https://ncbi.nlm.nih.gov/pubmed/29658451 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.04.005 |
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