Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

Casini, Alessandro; Sokollik, C; Lukowski, Samuel; Lurz, E; Rieubland, C; De Moerloose, Philippe; Neerman Arbez, Marguerite

doi:10.1111/hae.12719

Scientific article

English

Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

ContributorsCasini, Alessandro

; Sokollik, C; Lukowski, Samuel; Lurz, E; Rieubland, C; De Moerloose, Philippe; Neerman Arbez, Marguerite

Published inHaemophilia, vol. 21, no. 6, p. 820-827

Publication date2015

Abstract

Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen which accumulates and aggregates in the hepatocellular endoplasmic reticulum. Liver disease is variable.

Affiliation

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research group

Citation (ISO format)

CASINI, Alessandro et al. Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature. In: Haemophilia, 2015, vol. 21, n° 6, p. 820–827. doi: 10.1111/hae.12719

Article (Published version)

Identifiers

PID : unige:83345
DOI : 10.1111/hae.12719
PMID : 25990487

ISSN of the journal1351-8216

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Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen which accumulates and aggregates in the hepatocellular endoplasmic reticulum. Liver disease is variable.

Technical informations