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 *

128 related articles for article (PubMed ID: 15645285)

  • 1. Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.
    Noelle V; Knuepfer M; Pulzer F; Schuster V; Siekmeyer W; Matthijs G; Vogtmann C
    Eur J Pediatr; 2005 Apr; 164(4):223-6. PubMed ID: 15645285
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
    van de Kamp JM; Lefeber DJ; Ruijter GJ; Steggerda SJ; den Hollander NS; Willems SM; Matthijs G; Poorthuis BJ; Wevers RA
    J Med Genet; 2007 Apr; 44(4):277-80. PubMed ID: 17158594
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
    Makhamreh MM; Cottingham N; Ferreira CR; Berger S; Al-Kouatly HB
    J Inherit Metab Dis; 2020 Mar; 43(2):223-233. PubMed ID: 31420886
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.
    Wu RH; Li DF; Tang WT; Qiu KY; Li Y; Liao XY; Tang DX; Qin LJ; Deng BQ; Luo XY
    J Med Case Rep; 2018 Jan; 12(1):17. PubMed ID: 29361989
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
    Neumann LM; von Moers A; Kunze J; Blankenstein O; Marquardt T
    Eur J Pediatr; 2003 Oct; 162(10):710-3. PubMed ID: 12905014
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital disorders of glycosylation with neonatal presentation.
    Resende C; Carvalho C; Alegria A; Oliveira D; Quelhas D; Bandeira A; Proença E
    BMJ Case Rep; 2014 Apr; 2014():. PubMed ID: 24739649
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
    Panigrahy N; Lingappa L; Ramadevi AR; Venkatlakshmi A
    Indian J Pediatr; 2016 Apr; 83(4):359-60. PubMed ID: 26365158
    [No Abstract]   [Full Text] [Related]  

  • 9. Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia.
    Marquardt T; Hülskamp G; Gehrmann J; Debus V; Harms E; Kehl HG
    Eur J Pediatr; 2002 Oct; 161(10):524-7. PubMed ID: 12297897
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.
    Rudaks LI; Andersen C; Khong TY; Kelly A; Fietz M; Barnett CP
    Pediatr Cardiol; 2012 Jun; 33(5):827-30. PubMed ID: 22374380
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.
    Aronica E; van Kempen AA; van der Heide M; Poll-The BT; van Slooten HJ; Troost D; Rozemuller-Kwakkel JM
    Acta Neuropathol; 2005 Apr; 109(4):433-42. PubMed ID: 15714316
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.
    Truin G; Guillard M; Lefeber DJ; Sykut-Cegielska J; Adamowicz M; Hoppenreijs E; Sengers RCA; Wevers RA; Morava E
    Mol Genet Metab; 2008 Aug; 94(4):481-484. PubMed ID: 18571450
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops.
    Edwards M; McKenzie F; O'callaghan S; Somerset D; Woodford P; Spilsbury J; Fietz M; Fletcher J
    Prenat Diagn; 2006 Oct; 26(10):985-8. PubMed ID: 16915591
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
    Kjaergaard S; Schwartz M; Skovby F
    Arch Dis Child; 2001 Sep; 85(3):236-9. PubMed ID: 11517108
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. 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]  

  • 19. Ophthalmic manifestations of congenital disorder of glycosylation type 1a.
    Jensen H; Kjaergaard S; Klie F; Moller HU
    Ophthalmic Genet; 2003 Jun; 24(2):81-8. PubMed ID: 12789572
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.