Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report

Hepatic fibrinogen storage disease is a rare autosomal dominant genetic disorder characterized by hypofibrinogenemia, as well as the retention of variant fibrinogen within the hepatocellular endoplasmic reticulum. Here, we describe an asymptomatic 4-year-old boy with abnormal liver function test res...

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Podrobná bibliografie
Vydáno v:J Int Med Res
Hlavní autoři: Gu, Leilei, Wang, Bin, Liu, Lu, Gan, Qiaorong, Liu, Xiaolong, Chen, Lihong, Chen, Li
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7169362/
https://ncbi.nlm.nih.gov/pubmed/31965886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519898033
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