Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation

Paola Francalanci; Filippo M. Santorelli; Ilaria Talini; Renata Boldrini; Rita Devito; Francesca Diomedi Camassei; Giuseppe Maggiore; Francesco Callea

doi:10.1016/j.jpeds.2005.10.007

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation

Paola Francalanci, Filippo M. Santorelli, Ilaria Talini, Renata Boldrini, Rita Devito, Francesca Diomedi Camassei, Giuseppe Maggiore, Francesco Callea

Research output: Contribution to journal › Article › peer-review

Abstract

We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.

Original language	English
Pages (from-to)	396-398
Number of pages	3
Journal	Journal of Pediatrics
Volume	148
Issue number	3
DOIs	https://doi.org/10.1016/j.jpeds.2005.10.007
Publication status	Published - Mar 2006

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2005.10.007

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title = "Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation",

abstract = "We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.",

author = "Paola Francalanci and Santorelli, {Filippo M.} and Ilaria Talini and Renata Boldrini and Rita Devito and Camassei, {Francesca Diomedi} and Giuseppe Maggiore and Francesco Callea",

year = "2006",

month = mar,

doi = "10.1016/j.jpeds.2005.10.007",

language = "English",

volume = "148",

pages = "396--398",

journal = "Journal of Pediatrics",

issn = "0022-3476",

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T1 - Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation

AU - Francalanci, Paola

AU - Santorelli, Filippo M.

AU - Talini, Ilaria

AU - Boldrini, Renata

AU - Devito, Rita

AU - Camassei, Francesca Diomedi

AU - Maggiore, Giuseppe

AU - Callea, Francesco

PY - 2006/3

Y1 - 2006/3

N2 - We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.

AB - We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.

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M3 - Article

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JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 3

ER -

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation

Abstract

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