BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 8040340)

  • 1. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.
    Wang AM; Kanzaki T; Desnick RJ
    J Clin Invest; 1994 Aug; 94(2):839-45. PubMed ID: 8040340
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.
    Wang AM; Schindler D; Desnick R
    J Clin Invest; 1990 Nov; 86(5):1752-6. PubMed ID: 2243144
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.
    Kanzaki T; Wang AM; Desnick RJ
    J Clin Invest; 1991 Aug; 88(2):707-11. PubMed ID: 1907616
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies.
    Kanzaki T; Yokota M; Irie F; Hirabayashi Y; Wang AM; Desnick RJ
    Arch Dermatol; 1993 Apr; 129(4):460-5. PubMed ID: 8466216
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.
    Desnick RJ; Wang AM
    J Inherit Metab Dis; 1990; 13(4):549-59. PubMed ID: 2122121
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
    Sakuraba H; Matsuzawa F; Aikawa SI; Doi H; Kotani M; Nakada H; Fukushige T; Kanzaki T
    J Hum Genet; 2004; 49(1):1-8. PubMed ID: 14685826
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases.
    Schindler D; Kanzaki T; Desnick RJ
    Clin Chim Acta; 1990 Sep; 190(1-2):81-91. PubMed ID: 2208741
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family.
    Wang AM; Ioannou YA; Zeidner KM; Desnick RJ
    Mol Genet Metab; 1998 Oct; 65(2):165-73. PubMed ID: 9787108
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.
    Kodama K; Kobayashi H; Abe R; Ohkawara A; Yoshii N; Yotsumoto S; Fukushige T; Nagatsuka Y; Hirabayashi Y; Kanzaki T
    Br J Dermatol; 2001 Feb; 144(2):363-8. PubMed ID: 11251574
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.
    Chabás A; Coll MJ; Aparicio M; Rodriguez Diaz E
    J Inherit Metab Dis; 1994; 17(6):724-31. PubMed ID: 7707696
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum.
    Kanda A; Tsuyama S; Murata F; Kodama K; Hirabayashi Y; Kanzaki T
    J Dermatol Sci; 2002 May; 29(1):42-8. PubMed ID: 12007720
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Schindler disease/Kanzaki disease].
    Kanzaki T
    Nihon Rinsho; 1995 Dec; 53(12):2982-7. PubMed ID: 8577046
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
    Bakker HD; de Sonnaville ML; Vreken P; Abeling NG; Groener JE; Keulemans JL; van Diggelen OP
    Eur J Hum Genet; 2001 Feb; 9(2):91-6. PubMed ID: 11313741
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.
    Kanekura T; Sakuraba H; Matsuzawa F; Aikawa S; Doi H; Hirabayashi Y; Yoshii N; Fukushige T; Kanzaki T
    J Dermatol Sci; 2005 Jan; 37(1):15-20. PubMed ID: 15619430
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular cloning of cDNA encoding alpha-N-acetylgalactosaminidase from Acremonium sp. and its expression in yeast.
    Ashida H; Tamaki H; Fujimoto T; Yamamoto K; Kumagai H
    Arch Biochem Biophys; 2000 Dec; 384(2):305-10. PubMed ID: 11368317
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
    Keulemans JL; Reuser AJ; Kroos MA; Willemsen R; Hermans MM; van den Ouweland AM; de Jong JG; Wevers RA; Renier WO; Schindler D; Coll MJ; Chabas A; Sakuraba H; Suzuki Y; van Diggelen OP
    J Med Genet; 1996 Jun; 33(6):458-64. PubMed ID: 8782044
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An investigation into the glycolipid metabolism of alpha-N-acetylgalactosaminidase-deficient fibroblasts using native and artificial glycolipids.
    Klima B; Pohlentz G; Schindler D; Egge H
    Biol Chem Hoppe Seyler; 1992 Oct; 373(10):989-99. PubMed ID: 1418679
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
    [TBL] [Abstract][Full Text] [Related]  

  • 19. delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
    Plewinska M; Thunell S; Holmberg L; Wetmur JG; Desnick RJ
    Am J Hum Genet; 1991 Jul; 49(1):167-74. PubMed ID: 2063868
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
    Molho-Pessach V; Bargal R; Abramowitz Y; Doviner V; Ingber A; Raas-Rothschild A; Ne'eman Z; Zeigler M; Zlotogorski A
    J Am Acad Dermatol; 2007 Sep; 57(3):407-12. PubMed ID: 17420068
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.