Particular fibrinogen gamma chain mutations occurring in the gamma-module induce changes that hamper gamma-gamma dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition has been termed hereditary hypofibrinogenemia with hepatic storage (HHHS). So far, seven of such mutations in the fibrinogen gamma chain have been detected. We are reporting on an additional mutation occurring in a 3.5-year-old Turkish child undergoing a needle liver biopsy because of the concomitance of transaminase elevation of unknown origin and low plasma fibrinogen level. The liver biopsy showed an intra-hepatocytic storage of ...
Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinoge...
Congenital hypofibrinogenemia is a rare bleeding disorder characterized by abnormally low levels of ...
INTRODUCTION Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic ...
Particular fibrinogen gamma chain mutations occurring in the gamma-module induce changes that hamper...
Summary. Background: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) a...
Summary. Background: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) a...
Background: Type I fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congeni...
BackgroundQuantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare con...
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers,...
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers,...
Background: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare c...
We report a 9-year-old patient with abnormal liver tests found incidentally during routine bloodwork...
Hepatic fibrinogen storage disease is a rare autosomal dominant genetic disorder characterized by hy...
BACKGROUND: Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinoge...
The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Ange...
Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinoge...
Congenital hypofibrinogenemia is a rare bleeding disorder characterized by abnormally low levels of ...
INTRODUCTION Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic ...
Particular fibrinogen gamma chain mutations occurring in the gamma-module induce changes that hamper...
Summary. Background: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) a...
Summary. Background: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) a...
Background: Type I fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congeni...
BackgroundQuantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare con...
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers,...
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers,...
Background: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare c...
We report a 9-year-old patient with abnormal liver tests found incidentally during routine bloodwork...
Hepatic fibrinogen storage disease is a rare autosomal dominant genetic disorder characterized by hy...
BACKGROUND: Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinoge...
The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Ange...
Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinoge...
Congenital hypofibrinogenemia is a rare bleeding disorder characterized by abnormally low levels of ...
INTRODUCTION Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic ...