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 *

141 related articles for article (PubMed ID: 2019577)

  • 1. Sialic acid metabolism in sialuria fibroblasts.
    Seppala R; Tietze F; Krasnewich D; Weiss P; Ashwell G; Barsh G; Thomas GH; Packman S; Gahl WA
    J Biol Chem; 1991 Apr; 266(12):7456-61. PubMed ID: 2019577
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and biochemical studies in an American child with sialuria.
    Krasnewich DM; Tietze F; Krause W; Pretzlaff R; Wenger DA; Diwadkar V; Gahl WA
    Biochem Med Metab Biol; 1993 Feb; 49(1):90-6. PubMed ID: 8439453
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
    Ferreira H; Seppala R; Pinto R; Huizing M; Martins E; Braga AC; Gomes L; Krasnewich DM; Sa Miranda MC; Gahl WA
    Mol Genet Metab; 1999 Jun; 67(2):131-7. PubMed ID: 10356312
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dominant inheritance of sialuria, an inborn error of feedback inhibition.
    Leroy JG; Seppala R; Huizing M; Dacremont G; De Simpel H; Van Coster RN; Orvisky E; Krasnewich DM; Gahl WA
    Am J Hum Genet; 2001 Jun; 68(6):1419-27. PubMed ID: 11326336
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
    Seppala R; Lehto VP; Gahl WA
    Am J Hum Genet; 1999 Jun; 64(6):1563-9. PubMed ID: 10330343
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.
    Wopereis S; Abd Hamid UM; Critchley A; Royle L; Dwek RA; Morava E; Leroy JG; Wilcken B; Lagerwerf AJ; Huijben KM; Lefeber DJ; Rudd PM; Wevers RA
    Biochim Biophys Acta; 2006 Jun; 1762(6):598-607. PubMed ID: 16769205
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of the metabolic defect in sialuria.
    Weiss P; Tietze F; Gahl WA; Seppala R; Ashwell G
    J Biol Chem; 1989 Oct; 264(30):17635-6. PubMed ID: 2808337
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.
    Thomas GH; Reynolds LW; Miller CS
    Pediatr Res; 1985 May; 19(5):451-5. PubMed ID: 4000771
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
    Tietze F; Seppala R; Renlund M; Hopwood JJ; Harper GS; Thomas GH; Gahl WA
    J Biol Chem; 1989 Sep; 264(26):15316-22. PubMed ID: 2768266
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria.
    Kamerling JP; Strecker G; Farriaux JP; Dorland L; Haverkamp J; Vliegenthart JF
    Biochim Biophys Acta; 1979 Mar; 583(3):403-8. PubMed ID: 444571
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical course and biochemistry of sialuria.
    Enns GM; Seppala R; Musci TJ; Weisiger K; Ferrell LD; Wenger DA; Gahl WA; Packman S
    J Inherit Metab Dis; 2001 Jun; 24(3):328-36. PubMed ID: 11486897
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Enhanced sialylation of recombinant human erythropoietin in Chinese hamster ovary cells by combinatorial engineering of selected genes.
    Son YD; Jeong YT; Park SY; Kim JH
    Glycobiology; 2011 Aug; 21(8):1019-28. PubMed ID: 21436238
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Enzymatic synthesis of cytidine 5'-monophospho-N-acetylneuraminic acid.
    Hamamoto T; Takeda S; Noguchi T
    Biosci Biotechnol Biochem; 2005 Oct; 69(10):1944-50. PubMed ID: 16244446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sialylation of glycoprotein oligosaccharides with N-acetyl-, N-glycolyl-, and N-O-diacetylneuraminic acids.
    Higa HH; Paulson JC
    J Biol Chem; 1985 Jul; 260(15):8838-49. PubMed ID: 4019457
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hydroxylation of CMP-NeuAc controls the expression of N-glycolylneuraminic acid in GM3 ganglioside of the small intestine of inbred rats.
    Bouhours JF; Bouhours D
    J Biol Chem; 1989 Oct; 264(29):16992-9. PubMed ID: 2793841
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Engineering intracellular CMP-sialic acid metabolism into insect cells and methods to enhance its generation.
    Viswanathan K; Narang S; Hinderlich S; Lee YC; Betenbaugh MJ
    Biochemistry; 2005 May; 44(20):7526-34. PubMed ID: 15895995
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Sialuria: a second case.
    Wilcken B; Don N; Greenaway R; Hammond J; Sosula L
    J Inherit Metab Dis; 1987; 10(2):97-102. PubMed ID: 2443758
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.
    Blom HJ; Andersson HC; Seppala R; Tietze F; Gahl WA
    Biochem J; 1990 Jun; 268(3):621-5. PubMed ID: 2363700
    [TBL] [Abstract][Full Text] [Related]  

  • 19. N-Acetylneuraminic acid and N-glycolylneuraminic acid in the O-linked oligosaccharides of a tumor cell glycoprotein. Incorporation and distribution.
    Sherblom AP; Dahlin CE
    J Biol Chem; 1985 Feb; 260(3):1484-92. PubMed ID: 3918040
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.
    Thomas GH; Scocca J; Miller CS; Reynolds L
    Clin Genet; 1989 Oct; 36(4):242-9. PubMed ID: 2553307
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.