These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 23499581)

  • 1. Thrombotic complications in patients with PMM2-CDG.
    Linssen M; Mohamed M; Wevers RA; Lefeber DJ; Morava E
    Mol Genet Metab; 2013 May; 109(1):107-11. PubMed ID: 23499581
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
    Arnoux JB; Boddaert N; Valayannopoulos V; Romano S; Bahi-Buisson N; Desguerre I; de Keyzer Y; Munnich A; Brunelle F; Seta N; Dautzenberg MD; de Lonlay P
    Mol Genet Metab; 2008 Apr; 93(4):444-9. PubMed ID: 18093857
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
    Monin ML; Mignot C; De Lonlay P; Héron B; Masurel A; Mathieu-Dramard M; Lenaerts C; Thauvin C; Gérard M; Roze E; Jacquette A; Charles P; de Baracé C; Drouin-Garraud V; Khau Van Kien P; Cormier-Daire V; Mayer M; Ogier H; Brice A; Seta N; Héron D
    Orphanet J Rare Dis; 2014 Dec; 9():207. PubMed ID: 25497157
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.
    de la Morena-Barrio ME; Di Michele M; Lozano ML; Rivera J; Pérez-Dueñas B; Altisent C; Sevivas T; Vicente V; Jaeken J; Freson K; Corral J
    Thromb Res; 2014 Mar; 133(3):412-7. PubMed ID: 24388574
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
    Witters P; Honzik T; Bauchart E; Altassan R; Pascreau T; Bruneel A; Vuillaumier S; Seta N; Borgel D; Matthijs G; Jaeken J; Meersseman W; Cassiman D; Pascale de L; Morava E
    Genet Med; 2019 May; 21(5):1181-1188. PubMed ID: 30293989
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
    Stefanits H; Konstantopoulou V; Kuess M; Milenkovic I; Matula C
    J Neurosurg Pediatr; 2014 Nov; 14(5):546-9. PubMed ID: 25192236
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
    Chan B; Clasquin M; Smolen GA; Histen G; Powe J; Chen Y; Lin Z; Lu C; Liu Y; Cang Y; Yan Z; Xia Y; Thompson R; Singleton C; Dorsch M; Silverman L; Su SM; Freeze HH; Jin S
    Hum Mol Genet; 2016 Jun; 25(11):2182-2193. PubMed ID: 27053713
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Abnormal fat distribution in PMM2-CDG.
    Wolthuis DF; van Asbeck EV; Kozicz T; Morava E
    Mol Genet Metab; 2013 Nov; 110(3):411-3. PubMed ID: 24063868
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.
    López-Gálvez R; de la Morena-Barrio ME; López-Lera A; Pathak M; Miñano A; Serrano M; Borgel D; Roldán V; Vicente V; Emsley J; Corral J
    Orphanet J Rare Dis; 2020 Oct; 15(1):280. PubMed ID: 33036649
    [TBL] [Abstract][Full Text] [Related]  

  • 10. PMM2-CDG: phenotype and genotype in four affected family members.
    Bortot B; Cosentini D; Faletra F; Biffi S; De Martino E; Carrozzi M; Severini GM
    Gene; 2013 Dec; 531(2):506-9. PubMed ID: 23988505
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Renal involvement in PMM2-CDG, a mini-review.
    Altassan R; Witters P; Saifudeen Z; Quelhas D; Jaeken J; Levtchenko E; Cassiman D; Morava E
    Mol Genet Metab; 2018 Mar; 123(3):292-296. PubMed ID: 29229467
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
    Pérez-Cerdá C; Girós ML; Serrano M; Ecay MJ; Gort L; Pérez Dueñas B; Medrano C; García-Alix A; Artuch R; Briones P; Pérez B
    J Pediatr; 2017 Apr; 183():170-177.e1. PubMed ID: 28139241
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome.
    Okamoto N; Wada Y; Kobayashi M; Otani K; Tagawa T; Futagi Y; Imayoshi Y; Hayashi A; Shimizu A; Kato Y
    J Inherit Metab Dis; 1993; 16(2):435-40. PubMed ID: 8412004
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.
    Mühlhausen C; Henneke L; Schlotawa L; Behme D; Grüneberg M; Gärtner J; Marquardt T
    JIMD Rep; 2020 Sep; 55(1):38-43. PubMed ID: 32905087
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
    Yuste-Checa P; Gámez A; Brasil S; Desviat LR; Ugarte M; Pérez-Cerdá C; Pérez B
    Hum Mutat; 2015 Sep; 36(9):851-60. PubMed ID: 26014514
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Thrombophilic risk factors in epileptic children treated with valproic Acid.
    Unal O; Deda G; Teber S; Ertem M; Akar N
    Pediatr Neurol; 2009 Feb; 40(2):102-6. PubMed ID: 19135623
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.
    de la Morena-Barrio ME; Sevivas TS; Martinez-Martinez I; Miñano A; Vicente V; Jaeken J; Corral J
    J Thromb Haemost; 2012 Dec; 10(12):2625-7. PubMed ID: 23082948
    [No Abstract]   [Full Text] [Related]  

  • 18. Hypercoagulability and thrombosis.
    Bick RL; Ucar K
    Hematol Oncol Clin North Am; 1992 Dec; 6(6):1421-31. PubMed ID: 1452521
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome].
    Lefrère B; Stepanian A; Itzhar-Baïkian N; Charles P; Hadj-Ali A; Joly B; Alhenc-Gelas M; Drouet L; Veyradier A; Siguret V
    Ann Biol Clin (Paris); 2018 Apr; 76(2):217-223. PubMed ID: 29623892
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Efficacy and safety of anticoagulation with heparin versus heparin plus epoprostenol in patients undergoing extracorporeal liver support with Prometheus.
    Krisper P; Tiran B; Fliser D; Haditsch B; Stadlbauer V; Otto R; Ernst T; Kretschmer U; Stauber RE; Haller H; Holzer H; Manns MP; Rifai K
    Artif Organs; 2010 Jan; 34(1):84-8. PubMed ID: 19663866
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.