Literature DB >> 23082948

Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.

M E de la Morena-Barrio, T S Sevivas, I Martinez-Martinez, A Miñano, V Vicente, J Jaeken, J Corral.   

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Year:  2012        PMID： 23082948     DOI： 10.1111/jth.12031

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  4 in total

1.  Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

Authors:  María E de la Morena-Barrio; María J Ballesta-Martínez; Raquel López-Gálvez; Ana I Antón; Vanessa López-González; Laia Martínez-Ribot; José Padilla; Antonia Miñano; Oscar García-Algar; Miguel Del Campo; Javier Corral; Encarna Guillén-Navarro; Vicente Vicente
Journal:  Pediatr Res       Date:  2017-09-20       Impact factor: 3.756

2.  Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Authors:  Christina T Thiesler; Samanta Cajic; Dirk Hoffmann; Christian Thiel; Laura van Diepen; René Hennig; Malte Sgodda; Robert Weiβmann; Udo Reichl; Doris Steinemann; Ulf Diekmann; Nicolas M B Huber; Astrid Oberbeck; Tobias Cantz; Andreas W Kuss; Christian Körner; Axel Schambach; Erdmann Rapp; Falk F R Buettner
Journal:  Mol Cell Proteomics       Date:  2016-01-19       Impact factor: 5.911

3.  GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Authors:  Maria E de la Morena-Barrio; Trinidad Hernández-Caselles; Javier Corral; Roberto García-López; Irene Martínez-Martínez; Belen Pérez-Dueñas; Carmen Altisent; Teresa Sevivas; Soren R Kristensen; Encarna Guillén-Navarro; Antonia Miñano; Vicente Vicente; Jaak Jaeken; Maria L Lozano
Journal:  Orphanet J Rare Dis       Date:  2013-10-20       Impact factor: 4.123

4.  Defects of splicing in antithrombin deficiency.

Authors:  María E de la Morena-Barrio; Raquel López-Gálvez; Irene Martínez-Martínez; Susana Asenjo; Teresa S Sevivas; María F López; Ewa Wypasek; Laura Entrena; Vicente Vicente; Javier Corral
Journal:  Res Pract Thromb Haemost       Date:  2017-07-14
  4 in total

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