Literature DB >> 19458552

Fibrinogen storage disease caused by Aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease.

Tsuyoshi Sogo1, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Takashi Miida, Francesco Callea, Paola Francalanci, Ken-Ichi Hirano, Hajime Kitamura, Toru Yorifuji, Tomoo Fujisawa.   

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Year:  2009        PMID： 19458552     DOI： 10.1097/MPG.0b013e31817ed7ea

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  8 in total

1.  The fibrous form of intracellular inclusion bodies in recombinant variant fibrinogen-producing cells is specific to the hepatic fibrinogen storage disease-inducible variant fibrinogen.

Authors:  Shinpei Arai; Naoko Ogiwara; Saki Mukai; Yuka Takezawa; Mitsutoshi Sugano; Takayuki Honda; Nobuo Okumura
Journal:  Int J Hematol       Date:  2017-02-04       Impact factor: 2.490

Review 2.  Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.

Authors:  Francesco Callea; Paola Francalanci; Isabella Giovannoni
Journal:  Int J Mol Sci       Date:  2021-05-28       Impact factor: 5.923

3.  Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs.

Authors:  Abdulrahman Al-Hussaini; Abdulhadi Altalhi; Imad El Hag; Hussa AlHussaini; Paola Francalanci; Isabella Giovannoni; Francesco Callea
Journal:  Saudi J Gastroenterol       Date:  2014 Jul-Aug       Impact factor: 2.485

4.  Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.

Authors:  Mei-Hong Zhang; A S Knisely; Neng-Li Wang; Jing-Yu Gong; Jian-She Wang
Journal:  BMC Gastroenterol       Date:  2016-08-12       Impact factor: 3.067

5.  Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.

Authors:  Francesco Callea; Isabella Giovannoni; Sinan Sari; Esendagli Guldal; Buket Dalgic; Gulen Akyol; Tsuyoshi Sogo; Abdulrahman Al-Hussaini; Giuseppe Maggiore; Andrea Bartuli; Renata Boldrini; Paola Francalanci; Emanuele Bellacchio
Journal:  Int J Mol Sci       Date:  2017-12-15       Impact factor: 5.923

6.  Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report.

Authors:  Leilei Gu; Bin Wang; Lu Liu; Qiaorong Gan; Xiaolong Liu; Lihong Chen; Li Chen
Journal:  J Int Med Res       Date:  2020-01       Impact factor: 1.671

Review 7.  Hereditary Hypofibrinogenemia with Hepatic Storage.

Authors:  Rosanna Asselta; Elvezia Maria Paraboschi; Stefano Duga
Journal:  Int J Mol Sci       Date:  2020-10-22       Impact factor: 5.923

8.  Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

Authors:  Guven Burcu; Emanuele Bellacchio; Elif Sag; Alper Han Cebi; Ismail Saygin; Aysenur Bahadir; Guldal Yilmaz; Marialuisa Corbeddu; Murat Cakir; Francesco Callea
Journal:  Int J Mol Sci       Date:  2020-07-20       Impact factor: 5.923
  8 in total

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