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Journal Abstract Search

258 related items for PubMed ID: 8563136

  • 1. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
    Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA.
    Glycobiology; 1995 Jul; 5(5):503-10. PubMed ID: 8563136
    [Abstract] [Full Text] [Related]

  • 2. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.
    Panneerselvam K, Freeze HH.
    J Clin Invest; 1996 Mar 15; 97(6):1478-87. PubMed ID: 8617881
    [Abstract] [Full Text] [Related]

  • 3. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?
    Powell LD, Paneerselvam K, Vij R, Diaz S, Manzi A, Buist N, Freeze H, Varki A.
    J Clin Invest; 1994 Nov 15; 94(5):1901-9. PubMed ID: 7962535
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).
    Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH.
    J Clin Invest; 2000 Jan 15; 105(2):191-8. PubMed ID: 10642597
    [Abstract] [Full Text] [Related]

  • 6. Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.
    Panneerselvam K, Etchison JR, Skovby F, Freeze HH.
    Biochem Mol Med; 1997 Aug 15; 61(2):161-7. PubMed ID: 9259981
    [Abstract] [Full Text] [Related]

  • 7. A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.
    Charlwood J, Clayton P, Johnson A, Keir G, Mian N, Winchester B.
    J Inherit Metab Dis; 1997 Nov 15; 20(6):817-26. PubMed ID: 9427152
    [Abstract] [Full Text] [Related]

  • 8. Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
    Körner C, Lehle L, von Figura K.
    Glycobiology; 1998 Feb 15; 8(2):165-71. PubMed ID: 9451026
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
    Körner C, Lehle L, von Figura K.
    Glycoconj J; 1998 May 08; 15(5):499-505. PubMed ID: 9881752
    [Abstract] [Full Text] [Related]

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  • 12. Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P.
    Henry H, Tissot JD, Messerli B, Markert M, Muntau A, Skladal D, Sperl W, Jaeken J, Weidinger S, Heyne K, Bachmann C.
    J Lab Clin Med; 1997 Apr 08; 129(4):412-21. PubMed ID: 9104884
    [Abstract] [Full Text] [Related]

  • 13. A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
    Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE.
    Orphanet J Rare Dis; 2016 Jun 24; 11(1):84. PubMed ID: 27343064
    [Abstract] [Full Text] [Related]

  • 14. 5-thiomannosides block the biosynthesis of dolichol-linked oligosaccharides and mimic class I congenital disorders of glycosylation.
    Zandberg WF, Gao N, Kumarasamy J, Lehrman MA, Seidah NG, Pinto BM.
    Chembiochem; 2012 Feb 13; 13(3):392-401. PubMed ID: 22262650
    [Abstract] [Full Text] [Related]

  • 15. Regulation of N-linked glycoprotein assembly in uteri by steroid hormones.
    Dutt A, Tang JP, Welply JK, Carson DD.
    Endocrinology; 1986 Feb 13; 118(2):661-73. PubMed ID: 2417825
    [Abstract] [Full Text] [Related]

  • 16. Carbohydrate-deficient glycoprotein syndrome.
    Krasnewich D, Gahl WA.
    Adv Pediatr; 1997 Feb 13; 44():109-40. PubMed ID: 9265969
    [Abstract] [Full Text] [Related]

  • 17. Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
    Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K.
    Proc Natl Acad Sci U S A; 1998 Oct 27; 95(22):13200-5. PubMed ID: 9789065
    [Abstract] [Full Text] [Related]

  • 18. The formation of lipid-linked sugars as intermediates in glycoprotein synthesis in rabbit mammary gland.
    Speake BK, White DA.
    Biochem J; 1978 Feb 15; 170(2):273-83. PubMed ID: 565204
    [Abstract] [Full Text] [Related]

  • 19. Effect of cell attachment and growth on the synthesis and fate of dolichol-linked oligosaccharides in Chinese hamster ovary cells.
    Cacan R, Labiau O, Mir AM, Verbert A.
    Eur J Biochem; 1993 Aug 01; 215(3):873-81. PubMed ID: 8354292
    [Abstract] [Full Text] [Related]

  • 20. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
    Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T.
    J Clin Invest; 2000 Jan 01; 105(2):233-9. PubMed ID: 10642602
    [Abstract] [Full Text] [Related]

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