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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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Detalles Bibliográficos
Autores principales:	Gu, Leilei, Wang, Bin, Liu, Lu, Gan, Qiaorong, Liu, Xiaolong, Chen, Lihong, Chen, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169362/ https://www.ncbi.nlm.nih.gov/pubmed/31965886 http://dx.doi.org/10.1177/0300060519898033

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