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 *

429 related articles for article (PubMed ID: 26951030)

  • 1. [Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
    Sätilä H; Kuusela AL; Pietilä K; Niinikoski H; Keskinen P
    Duodecim; 2016; 132(3):253-9. PubMed ID: 26951030
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
    Westphal V; Kjaergaard S; Schollen E; Martens K; Grunewald S; Schwartz M; Matthijs G; Freeze HH
    Hum Mol Genet; 2002 Mar; 11(5):599-604. PubMed ID: 11875054
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
    Grünewald S
    Biochim Biophys Acta; 2009 Sep; 1792(9):827-34. PubMed ID: 19272306
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
    Masunaga Y; Mochizuki M; Kadoya M; Wada Y; Okamoto N; Fukami M; Kato F; Saitsu H; Ogata T
    Endocr J; 2021 May; 68(5):605-611. PubMed ID: 33583911
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
    Drouin-Garraud V; Belgrand M; Grünewald S; Seta N; Dacher JN; Hénocq A; Matthijs G; Cormier-Daire V; Frébourg T; Saugier-Veber P
    Am J Med Genet; 2001 Jun; 101(1):46-9. PubMed ID: 11343337
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Analysis of Variants in the General Population Reveals That
    Citro V; Cimmaruta C; Monticelli M; Riccio G; Hay Mele B; Cubellis MV; Andreotti G
    Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30061496
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).
    Barone R; Sturiale L; Fiumara A; Uziel G; Garozzo D; Jaeken J
    J Inherit Metab Dis; 2007 Feb; 30(1):107. PubMed ID: 17186415
    [TBL] [Abstract][Full Text] [Related]  

  • 9. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
    Altassan R; Péanne R; Jaeken J; Barone R; Bidet M; Borgel D; Brasil S; Cassiman D; Cechova A; Coman D; Corral J; Correia J; de la Morena-Barrio ME; de Lonlay P; Dos Reis V; Ferreira CR; Fiumara A; Francisco R; Freeze H; Funke S; Gardeitchik T; Gert M; Girad M; Giros M; Grünewald S; Hernández-Caselles T; Honzik T; Hutter M; Krasnewich D; Lam C; Lee J; Lefeber D; Marques-de-Silva D; Martinez AF; Moravej H; Õunap K; Pascoal C; Pascreau T; Patterson M; Quelhas D; Raymond K; Sarkhail P; Schiff M; Seroczyńska M; Serrano M; Seta N; Sykut-Cegielska J; Thiel C; Tort F; Vals MA; Videira P; Witters P; Zeevaert R; Morava E
    J Inherit Metab Dis; 2019 Jan; 42(1):5-28. PubMed ID: 30740725
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements.
    Coorg R; Lotze TE
    Neurology; 2012 Oct; 79(15):e131-3. PubMed ID: 23045520
    [No Abstract]   [Full Text] [Related]  

  • 12. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
    Schiff M; Roda C; Monin ML; Arion A; Barth M; Bednarek N; Bidet M; Bloch C; Boddaert N; Borgel D; Brassier A; Brice A; Bruneel A; Buissonnière R; Chabrol B; Chevalier MC; Cormier-Daire V; De Barace C; De Maistre E; De Saint-Martin A; Dorison N; Drouin-Garraud V; Dupré T; Echenne B; Edery P; Feillet F; Fontan I; Francannet C; Labarthe F; Gitiaux C; Héron D; Hully M; Lamoureux S; Martin-Coignard D; Mignot C; Morin G; Pascreau T; Pincemaille O; Polak M; Roubertie A; Thauvin-Robinet C; Toutain A; Viot G; Vuillaumier-Barrot S; Seta N; De Lonlay P
    J Med Genet; 2017 Dec; 54(12):843-851. PubMed ID: 28954837
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
    Vermeer S; Kremer HP; Leijten QH; Scheffer H; Matthijs G; Wevers RA; Knoers NA; Morava E; Lefeber DJ
    J Neurol; 2007 Oct; 254(10):1356-8. PubMed ID: 17694350
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
    Martínez-Monseny AF; Bolasell M; Callejón-Póo L; Cuadras D; Freniche V; Itzep DC; Gassiot S; Arango P; Casas-Alba D; de la Morena E; Corral J; Montero R; Pérez-Cerdá C; Pérez B; Artuch R; Jaeken J; Serrano M;
    Ann Neurol; 2019 May; 85(5):740-751. PubMed ID: 30873657
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
    Böhles H; Sewell AA; Gebhardt B; Reinecke-Lüthge A; Klöppel G; Marquardt T
    J Inherit Metab Dis; 2001 Dec; 24(8):858-62. PubMed ID: 11916319
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
    Lao JP; DiPrimio N; Prangley M; Sam FS; Mast JD; Perlstein EO
    G3 (Bethesda); 2019 Feb; 9(2):413-423. PubMed ID: 30530630
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
    Thiesler CT; Cajic S; Hoffmann D; Thiel C; van Diepen L; Hennig R; Sgodda M; Weiβmann R; Reichl U; Steinemann D; Diekmann U; Huber NM; Oberbeck A; Cantz T; Kuss AW; Körner C; Schambach A; Rapp E; Buettner FF
    Mol Cell Proteomics; 2016 Apr; 15(4):1435-52. PubMed ID: 26785728
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New and potential strategies for the treatment of PMM2-CDG.
    Gámez A; Serrano M; Gallego D; Vilas A; Pérez B
    Biochim Biophys Acta Gen Subj; 2020 Nov; 1864(11):129686. PubMed ID: 32712172
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
    Serrano M; de Diego V; Muchart J; Cuadras D; Felipe A; Macaya A; Velázquez R; Poo MP; Fons C; O'Callaghan MM; García-Cazorla A; Boix C; Robles B; Carratalá F; Girós M; Briones P; Gort L; Artuch R; Pérez-Cerdá C; Jaeken J; Pérez B; Pérez-Dueñas B
    Orphanet J Rare Dis; 2015 Oct; 10():138. PubMed ID: 26502900
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.