Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid

BACKGROUND: Fibrinogen storage disease (FSD) is a rare autosomal-dominant disorder caused by mutation in FGG, encoding the fibrinogen gamma chain. Here we report the first Han Chinese patient with FSD, caused by de novo fibrinogen Aguadilla mutation, and his response to pharmacologic management. CAS...

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Detalles Bibliográficos
Autores principales: Zhang, Mei-Hong, Knisely, A. S., Wang, Neng-li, Gong, Jing-Yu, Wang, Jian-She
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981954/
https://www.ncbi.nlm.nih.gov/pubmed/27520927
http://dx.doi.org/10.1186/s12876-016-0507-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981954/
https://www.ncbi.nlm.nih.gov/pubmed/27520927
http://dx.doi.org/10.1186/s12876-016-0507-3

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