Literature DB >> 30545931

MPI-CDG with transient hypoglycosylation and antithrombin deficiency.

María Eugenia de la Morena-Barrio1, Ewa Wypasek2, Danuta Owczarek3, Antonia Miñano1, Vicente Vicente1, Javier Corral4, Anetta Undas5.   

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Year:  2018        PMID： 30545931      PMCID： PMC6355499          DOI： 10.3324/haematol.2018.211326

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  17 in total

1.  Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Authors:  V Westphal; S Kjaergaard; J A Davis; S M Peterson; F Skovby; H H Freeze
Journal:  Mol Genet Metab       Date:  2001-05       Impact factor: 4.797

2.  Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.

Authors:  Anders Helander; Jaak Jaeken; Gert Matthijs; Gösta Eggertsen
Journal:  Clin Chim Acta       Date:  2014-02-06       Impact factor: 3.786

3.  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

4.  A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin.

Authors:  B K Mahmoodi; J-L P Brouwer; M K Ten Kate; W M Lijfering; N J G M Veeger; A B Mulder; H C Kluin-Nelemans; J Van Der Meer
Journal:  J Thromb Haemost       Date:  2010-03-04       Impact factor: 5.824

5.  Complete antithrombin deficiency in mice results in embryonic lethality.

Authors:  K Ishiguro; T Kojima; K Kadomatsu; Y Nakayama; A Takagi; M Suzuki; N Takeda; M Ito; K Yamamoto; T Matsushita; K Kusugami; T Muramatsu; H Saito
Journal:  J Clin Invest       Date:  2000-10       Impact factor: 14.808

6.  Mild antithrombin deficiency and risk of recurrent venous thromboembolism: results from the MEGA follow-up study.

Authors:  J Sokol; J F Timp; S le Cessie; A van Hylckama-Vlieg; F R Rosendaal; P Kubisz; S C Cannegieter; W M Lijfering
Journal:  J Thromb Haemost       Date:  2018-02-28       Impact factor: 5.824

7.  Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives.

Authors:  Willem M Lijfering; Jan-Leendert P Brouwer; Nic J G M Veeger; Ivan Bank; Michiel Coppens; Saskia Middeldorp; Karly Hamulyák; Martin H Prins; Harry R Büller; Jan van der Meer
Journal:  Blood       Date:  2009-01-12       Impact factor: 22.113

8.  Clinical presentation of venous thromboembolism in inflammatory bowel disease.

Authors:  Pavol Papay; Wolfgang Miehsler; Herbert Tilg; Wolfgang Petritsch; Walter Reinisch; Andreas Mayer; Thomas Haas; Arthur Kaser; Thomas Feichtenschlager; Harry Fuchssteiner; Peter Knoflach; Harald Vogelsang; Reingard Platzer; Wolfgang Tillinger; Bernhard Jaritz; Alfons Schmid; Benedikt Blaha; Clemens Dejaco; Anna Sobala; Ansgar Weltermann; Sabine Eichinger; Gottfried Novacek
Journal:  J Crohns Colitis       Date:  2012-11-03       Impact factor: 9.071

Review 9.  The genetics of antithrombin.

Authors:  Javier Corral; María Eugenia de la Morena-Barrio; Vicente Vicente
Journal:  Thromb Res       Date:  2018-07-05       Impact factor: 3.944

10.  Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.

Authors:  M E de la Morena-Barrio; I Martínez-Martínez; C de Cos; E Wypasek; V Roldán; A Undas; M van Scherpenzeel; D J Lefeber; M Toderici; T Sevivas; F España; J Jaeken; J Corral; V Vicente
Journal:  J Thromb Haemost       Date:  2016-06-29       Impact factor: 5.824
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  2 in total

Review 1.  Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Authors:  Anna Čechová; Ruqaiah Altassan; Delphine Borgel; Arnaud Bruneel; Joana Correia; Muriel Girard; Annie Harroche; Beata Kiec-Wilk; Klaus Mohnike; Tiffany Pascreau; Łukasz Pawliński; Silvia Radenkovic; Sandrine Vuillaumier-Barrot; Luis Aldamiz-Echevarria; Maria Luz Couce; Esmeralda G Martins; Dulce Quelhas; Eva Morava; Pascale de Lonlay; Peter Witters; Tomáš Honzík
Journal:  J Inherit Metab Dis       Date:  2020-04-21       Impact factor: 4.982

2.  Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Authors:  Rodrigo Tzovenos Starosta; Suzanne Boyer; Shawn Tahata; Kimiyo Raymond; Hee Eun Lee; Lynne A Wolfe; Christina Lam; Andrew C Edmondson; Ida Vanessa Doederlein Schwartz; Eva Morava
Journal:  Orphanet J Rare Dis       Date:  2021-01-07       Impact factor: 4.123
  2 in total

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