Congenital afibrinogenemia

G. Mancuso; C. Scalici; R. Potenzano; M. E. Mancuso

Congenital afibrinogenemia

G. Mancuso, C. Scalici, R. Potenzano, M. E. Mancuso

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

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

Abstract

Afibrinogenemia is an extremely rare hereditary hemorrhagic disorder, characterized by the absence of, or very low fibrinogen levels. The authors report on a case of congenital afibrinogenemia and describe the currently available treatment options for the different types of bleeding events. This rare condition seems to be caused by a mutation leading to a premature stop codon in the fibrinogen Aα-chain that blocks fibrinogen synthesis.

Original language	English
Pages (from-to)	157-160
Number of pages	4
Journal	Italian Journal of Pediatrics
Volume	29
Issue number	2
Publication status	Published - Apr 2003

Keywords

Bleeding events
Congenital afibrinogenemia
Genetic study

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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title = "Congenital afibrinogenemia",

abstract = "Afibrinogenemia is an extremely rare hereditary hemorrhagic disorder, characterized by the absence of, or very low fibrinogen levels. The authors report on a case of congenital afibrinogenemia and describe the currently available treatment options for the different types of bleeding events. This rare condition seems to be caused by a mutation leading to a premature stop codon in the fibrinogen Aα-chain that blocks fibrinogen synthesis.",

keywords = "Bleeding events, Congenital afibrinogenemia, Genetic study",

author = "G. Mancuso and C. Scalici and R. Potenzano and Mancuso, {M. E.}",

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AU - Mancuso, G.

AU - Scalici, C.

AU - Potenzano, R.

AU - Mancuso, M. E.

PY - 2003/4

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N2 - Afibrinogenemia is an extremely rare hereditary hemorrhagic disorder, characterized by the absence of, or very low fibrinogen levels. The authors report on a case of congenital afibrinogenemia and describe the currently available treatment options for the different types of bleeding events. This rare condition seems to be caused by a mutation leading to a premature stop codon in the fibrinogen Aα-chain that blocks fibrinogen synthesis.

AB - Afibrinogenemia is an extremely rare hereditary hemorrhagic disorder, characterized by the absence of, or very low fibrinogen levels. The authors report on a case of congenital afibrinogenemia and describe the currently available treatment options for the different types of bleeding events. This rare condition seems to be caused by a mutation leading to a premature stop codon in the fibrinogen Aα-chain that blocks fibrinogen synthesis.

KW - Bleeding events

KW - Congenital afibrinogenemia

KW - Genetic study

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Congenital afibrinogenemia

Abstract

Keywords

ASJC Scopus subject areas

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