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 *

243 related articles for article (PubMed ID: 1348043)

  • 1. Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
    Leinekugel P; Michel S; Conzelmann E; Sandhoff K
    Hum Genet; 1992 Mar; 88(5):513-23. PubMed ID: 1348043
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.
    Inui K; Yutaka T; Okada S; Yabuuchi H; Wenger DA; Desnick RJ
    J Inherit Metab Dis; 1985; 8(3):149-50. PubMed ID: 2949109
    [No Abstract]   [Full Text] [Related]  

  • 3. Assay for cerebroside sulfate (sulfatide) sulfatase in cultured skin fibroblasts with the natural activator protein.
    Lee-Vaupel M; Conzelmann E
    Clin Chim Acta; 1987 Sep; 168(1):55-68. PubMed ID: 2889546
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
    Ameen M; Lazzarino DA; Kelly BM; Gabel CA; Chang PL
    Mol Cell Biochem; 1990 Feb; 92(2):117-27. PubMed ID: 1968615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of plasma membrane associated mature beta-hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts.
    Mencarelli S; Cavalieri C; Magini A; Tancini B; Basso L; Lemansky P; Hasilik A; Li YT; Chigorno V; Orlacchio A; Emiliani C; Sonnino S
    FEBS Lett; 2005 Oct; 579(25):5501-6. PubMed ID: 16212960
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
    Charrow J; Binns HJ
    Clin Chim Acta; 1986 Apr; 156(1):41-9. PubMed ID: 2938852
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency.
    Eto Y; Gomibuchi I; Umezawa F; Tsuda T
    Enzyme; 1987; 38(1-4):273-9. PubMed ID: 2894304
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Lysosome enzyme pseudodeficiency].
    Bronner P; Rodier G; Cohen E; Derouiche F; Boulay C; Courtois S
    Rev Neurol (Paris); 2000 Nov; 156(11):1005-12. PubMed ID: 11119053
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
    Tempesta MC; Levade T; Salvayre R
    Clin Chim Acta; 1991 Oct; 202(3):149-65. PubMed ID: 1687673
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.
    Sharma R; Bukovac S; Callahan J; Mahuran D
    Biochim Biophys Acta; 2003 Jan; 1637(1):113-8. PubMed ID: 12527415
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.
    Poulos A; Holding J; Carey WF
    Clin Chim Acta; 1982 Apr; 120(3):331-40. PubMed ID: 6210469
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lysosomal enzyme precursors in human fibroblasts. Activation of cathepsin D precursor in vitro and activity of beta-hexosaminidase A precursor towards ganglioside GM2.
    Hasilik A; von Figura K; Conzelmann E; Nehrkorn H; Sandhoff K
    Eur J Biochem; 1982 Jul; 125(2):317-21. PubMed ID: 6214395
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy].
    Wiesmann UN
    Bull Schweiz Akad Med Wiss; 1978 Mar; 34(1-3):33-47. PubMed ID: 27269
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
    Ameen M; Chang PL
    FEBS Lett; 1987 Jul; 219(1):130-4. PubMed ID: 2885227
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Analysis of sulfatide and enzymes of sulfatide metabolism.
    Jungalwala FB; Natowicz MR; Chaturvedi P; Newburg DS
    Methods Enzymol; 2000; 311():94-105. PubMed ID: 10563314
    [No Abstract]   [Full Text] [Related]  

  • 16. Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
    Tan MA; Fuller M; Zabidi-Hussin ZA; Hopwood JJ; Meikle PJ
    Mol Genet Metab; 2010 Feb; 99(2):142-8. PubMed ID: 19815439
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Impaired proteolytic processing of lysosomal N-acetyl-beta-hexosaminidase in cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease.
    Hancock LW; Ricketts JP; Hildreth J
    Biochem Biophys Res Commun; 1988 Apr; 152(1):83-92. PubMed ID: 2965873
    [TBL] [Abstract][Full Text] [Related]  

  • 18. What can cell biology tell us about heterogeneity in lysosomal storage diseases?
    Gieselmann V
    Acta Paediatr Suppl; 2005 Mar; 94(447):80-6; discussion 79. PubMed ID: 15895717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Effect of ammonium chloride on subcellular distribution of lysosomal enzymes in human fibroblasts.
    Chang PL; Ameen M; Yu CZ; Kelly BM
    Exp Cell Res; 1988 Jun; 176(2):258-67. PubMed ID: 2897926
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A selective inhibitor Gal-PUGNAc of human lysosomal beta-hexosaminidases modulates levels of the ganglioside GM2 in neuroblastoma cells.
    Stubbs KA; Macauley MS; Vocadlo DJ
    Angew Chem Int Ed Engl; 2009; 48(7):1300-3. PubMed ID: 19130519
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.