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 *

133 related articles for article (PubMed ID: 7707696)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.
    van Diggelen OP; Schindler D; Willemsen R; Boer M; Kleijer WJ; Huijmans JG; Blom W; Galjaard H
    J Inherit Metab Dis; 1988; 11(4):349-57. PubMed ID: 3149698
    [TBL] [Abstract][Full Text] [Related]  

  • 9. alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
    de Jong J; van den Berg C; Wijburg H; Willemsen R; van Diggelen O; Schindler D; Hoevenaars F; Wevers R
    J Pediatr; 1994 Sep; 125(3):385-91. PubMed ID: 8071745
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. [Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]].
    Kanzaki T
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):372-4. PubMed ID: 9645085
    [No Abstract]   [Full Text] [Related]  

  • 14. Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease.
    Yokota M; Koji M; Yotsumoto S
    J Dermatol; 1995 Jan; 22(1):10-8. PubMed ID: 7897017
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. 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]  

  • 17. The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases.
    Garman SC; Hannick L; Zhu A; Garboczi DN
    Structure; 2002 Mar; 10(3):425-34. PubMed ID: 12005440
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.
    Prence EM; Gleason J; Natowicz MR
    Clin Chim Acta; 1996 Mar; 247(1-2):167-73. PubMed ID: 8920235
    [No Abstract]   [Full Text] [Related]  

  • 19. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease.
    Mayes JS; Scheerer JB; Sifers RN; Donaldson ML
    Clin Chim Acta; 1981 May; 112(2):247-51. PubMed ID: 6263521
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
    Asfaw B; Ledvinová J; Dobrovolńy R; Bakker HD; Desnick RJ; van Diggelen OP; de Jong JG; Kanzaki T; Chabas A; Maire I; Conzelmann E; Schindler D
    J Lipid Res; 2002 Jul; 43(7):1096-104. PubMed ID: 12091494
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.