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Journal Abstract Search

246 related items for PubMed ID: 9535779

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
    Van Schaftingen E, Jaeken J.
    FEBS Lett; 1995 Dec 27; 377(3):318-20. PubMed ID: 8549746
    [Abstract] [Full Text] [Related]

  • 3. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
    Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G.
    Hum Mutat; 2000 Sep 27; 16(3):247-52. PubMed ID: 10980531
    [Abstract] [Full Text] [Related]

  • 4. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
    Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH.
    Mol Genet Metab; 2001 May 27; 73(1):77-85. PubMed ID: 11350186
    [Abstract] [Full Text] [Related]

  • 5. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.
    Jaeken J, Pirard M, Adamowicz M, Pronicka E, van Schaftingen E.
    Pediatr Res; 1996 Nov 27; 40(5):764-6. PubMed ID: 8910943
    [Abstract] [Full Text] [Related]

  • 6. Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
    Helander A, Jaeken J, Matthijs G, Eggertsen G.
    Clin Chim Acta; 2014 Apr 20; 431():15-8. PubMed ID: 24508628
    [Abstract] [Full Text] [Related]

  • 7. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
    Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M.
    J Clin Invest; 1998 Aug 15; 102(4):647-52. PubMed ID: 9710431
    [Abstract] [Full Text] [Related]

  • 8. [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 Aug 15; 142(5):276-9. PubMed ID: 12920791
    [Abstract] [Full Text] [Related]

  • 9. Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
    Carchon H, Van Schaftingen E, Matthijs G, Jaeken J.
    Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):155-65. PubMed ID: 10571009
    [Abstract] [Full Text] [Related]

  • 10. Carbohydrate-deficient glycoprotein syndromes.
    Kościelak J.
    Acta Biochim Pol; 1999 Oct 08; 46(3):727-38. PubMed ID: 10698281
    [Abstract] [Full Text] [Related]

  • 11. Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies.
    Kjaergaard S.
    Dan Med Bull; 2004 Nov 08; 51(4):350-63. PubMed ID: 16009061
    [No Abstract] [Full Text] [Related]

  • 12. [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 08; 125(10):715-6. PubMed ID: 9835963
    [Abstract] [Full Text] [Related]

  • 13. 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 08; 32(6):313-8. PubMed ID: 11870587
    [Abstract] [Full Text] [Related]

  • 14. [Molecular diagnosis of congenital disorders of glycosylation].
    Vuillaumier-Barrot S.
    Ann Biol Clin (Paris); 2005 Dec 08; 63(2):135-43. PubMed ID: 15771971
    [Abstract] [Full Text] [Related]

  • 15. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
    Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T.
    J Clin Invest; 1998 Apr 01; 101(7):1414-20. PubMed ID: 9525984
    [Abstract] [Full Text] [Related]

  • 16. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
    Freeze HH, Aebi M.
    Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):167-78. PubMed ID: 10571010
    [Abstract] [Full Text] [Related]

  • 17. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
    Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G.
    Mol Genet Metab; 2013 Nov 08; 110(3):342-4. PubMed ID: 23890587
    [Abstract] [Full Text] [Related]

  • 18. Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
    Sharma V, Ichikawa M, He P, Scott DA, Bravo Y, Dahl R, Ng BG, Cosford ND, Freeze HH.
    J Biol Chem; 2011 Nov 11; 286(45):39431-8. PubMed ID: 21949237
    [Abstract] [Full Text] [Related]

  • 19. 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 11; 47(6):776-81. PubMed ID: 10852543
    [Abstract] [Full Text] [Related]

  • 20. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
    Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M.
    Clin Chem; 2016 Jan 11; 62(1):208-17. PubMed ID: 26430078
    [Abstract] [Full Text] [Related]

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