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Journal Abstract Search

144 related items for PubMed ID: 12920791

  • 1. [Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].
    Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, Zeman J.
    Cas Lek Cesk; 2003; 142(5):276-9. PubMed ID: 12920791
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  • 3. Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
    Coman D, McGill J, MacDonald R, Morris D, Klingberg S, Jaeken J, Appleton D.
    J Clin Neurosci; 2007 Jul; 14(7):668-72. PubMed ID: 17451957
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  • 4. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.
    Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA.
    Ann Neurol; 2000 Jun; 47(6):776-81. PubMed ID: 10852543
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  • 5. CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
    Jamroz E, Adamek D, Paprocka J, Adamowicz M, Marszał E, Wevers RA.
    J Child Neurol; 2009 Jan; 24(1):13-8. PubMed ID: 19168813
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  • 6. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
    de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT.
    Biochem Biophys Res Commun; 1998 Apr 07; 245(1):38-42. PubMed ID: 9535779
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  • 8. [Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].
    Vabres P, Sevin C, Amoric JC, Odièvre MH, Saudubray JM, de Prost Y.
    Ann Dermatol Venereol; 1998 Oct 07; 125(10):715-6. PubMed ID: 9835963
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  • 10. Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).
    Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Baracé C, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupré T, de Keyzer Y, Sidi D, Seta N, Bonnet D, de Lonlay P.
    J Med Genet; 2009 Apr 07; 46(4):287-8. PubMed ID: 19357119
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  • 12. Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
    Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA.
    Eur J Paediatr Neurol; 2009 Sep 07; 13(5):444-51. PubMed ID: 18948042
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  • 13. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
    Schollen E, Kjaergaard S, Martinsson T, Vuillaumier-Barrot S, Dunoe M, Keldermans L, Seta N, Matthijs G.
    J Med Genet; 2004 Nov 07; 41(11):877-80. PubMed ID: 15520415
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  • 14. Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.
    Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N.
    Neuropediatrics; 2003 Feb 07; 34(1):1-6. PubMed ID: 12690561
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  • 15. A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.
    Assmann B, Hackler R, Peters V, Schaefer JR, Arndt T, Mayatepek E, Jaeken J, Hoffmann GF.
    Neuropediatrics; 2001 Dec 07; 32(6):313-8. PubMed ID: 11870587
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  • 16. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
    Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L.
    J Pediatr; 2002 Nov 07; 141(5):695-700. PubMed ID: 12410200
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  • 17. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
    Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH.
    Glycobiology; 2005 Nov 07; 15(11):1084-93. PubMed ID: 16079417
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  • 18. 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 07; 26(10):985-8. PubMed ID: 16915591
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  • 19. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
    Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T.
    Hum Mutat; 2000 Nov 07; 16(5):395-400. PubMed ID: 11058896
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  • 20. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
    Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E.
    Nat Genet; 1997 May 07; 16(1):88-92. PubMed ID: 9140401
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