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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Gastroenterol
Egile Nagusiak: Zhang, Mei-Hong, Knisely, A. S., Wang, Neng-li, Gong, Jing-Yu, Wang, Jian-She
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4981954/
https://ncbi.nlm.nih.gov/pubmed/27520927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12876-016-0507-3
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