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 *

166 related articles for article (PubMed ID: 14685826)

  • 41. Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy.
    Rudolf J; Grond M; Schindler D; Heiss WD; Desnick RJ
    J Child Neurol; 1999 Aug; 14(8):543-7. PubMed ID: 10456768
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Mutations in PLA2G6 and the riddle of Schindler disease.
    Westaway SK; Gregory A; Hayflick SJ
    J Med Genet; 2007 Jan; 44(1):e64. PubMed ID: 17209134
    [No Abstract]   [Full Text] [Related]  

  • 43. [Human geneticist from Würzburg discovers a new hereditary disease. Schindler disease: an autosome recessive neuro-axonal dystrophy].
    Höhn H
    Fortschr Med; 1991 Sep; 109(28):570-1. PubMed ID: 1757057
    [No Abstract]   [Full Text] [Related]  

  • 44. Structural basis of Fabry disease.
    Garman SC; Garboczi DN
    Mol Genet Metab; 2002; 77(1-2):3-11. PubMed ID: 12359124
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.
    Tomasic IB; Metcalf MC; Guce AI; Clark NE; Garman SC
    J Biol Chem; 2010 Jul; 285(28):21560-6. PubMed ID: 20444686
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.
    Sarbu M; Zhu F; Peter-Katalinić J; Clemmer DE; Zamfir AD
    Rapid Commun Mass Spectrom; 2015 Nov; 29(21):1929-37. PubMed ID: 26443390
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Action of endo-alpha-N-acetylgalactosaminidase from Alcaligenes sp. on amino acid-O-glycans: comparison with the enzyme from Diplococcus pneumoniae.
    Fan JQ; Yamamoto K; Matsumoto Y; Hirabayashi Y; Kumagai H; Tochikura T
    Biochem Biophys Res Commun; 1990 Jun; 169(2):751-7. PubMed ID: 2357231
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.
    Wolfe DE; Schindler D; Desnick RJ
    J Neurol Sci; 1995 Sep; 132(1):44-56. PubMed ID: 8523030
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Isolation and structural characterization of sialic-acid-containing glycopeptides of the O-glycosidic type from the urine of two patients with an hereditary deficiency in alpha-N-acetylgalactosaminidase activity.
    Linden HU; Klein RA; Egge H; Peter-Katalinic J; Dabrowski J; Schindler D
    Biol Chem Hoppe Seyler; 1989 Jul; 370(7):661-72. PubMed ID: 2775488
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Multiple
    Albracht SPJ; Allon E; van Pelt J
    BBA Clin; 2017 Dec; 8():84-89. PubMed ID: 29062717
    [TBL] [Abstract][Full Text] [Related]  

  • 53. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
    Garman SC; Garboczi DN
    J Mol Biol; 2004 Mar; 337(2):319-35. PubMed ID: 15003450
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease.
    van Diggelen OP; Schindler D; Kleijer WJ; Huijmans JM; Galjaard H; Linden HU; Peter-Katalinic J; Egge H; Dabrowski U; Cantz M
    Lancet; 1987 Oct; 2(8562):804. PubMed ID: 2889023
    [No Abstract]   [Full Text] [Related]  

  • 55. BamHI polymorphism at N-acetyl-alpha-galactosaminidase locus (NAGA).
    Yamauchi T; Tanaka H; Hiraiwa M; Uda Y; Miyatake T; Tsuji S
    Nucleic Acids Res; 1991 May; 19(9):2518. PubMed ID: 1675010
    [No Abstract]   [Full Text] [Related]  

  • 56. [Biochemical study of unusual cases of Fabry disease].
    Beĭer EM; Karpova EA; Udalova OV; Tsvetkova IV
    Vopr Med Khim; 1998; 44(5):494-500. PubMed ID: 9916266
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I.
    Sarbu M; Robu A; Peter-Katalinić J; Zamfir AD
    Carbohydr Res; 2014 Oct; 398():90-100. PubMed ID: 25243357
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22.
    Geurts van Kessel AH; Westerveld A; de Groot PG; Meera Khan P; Hagemeijer A
    Cytogenet Cell Genet; 1980; 28(3):169-72. PubMed ID: 7192199
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Glycosidases of Ehrlich ascites tumor cells and ascitic fluid--purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase.
    Yagi F; Eckhardt AE; Goldstein IJ
    Arch Biochem Biophys; 1990 Jul; 280(1):61-7. PubMed ID: 2162155
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Identification of dual active sites in
    Cheong CSY; Khan SU; Ahmed N; Narayanan K
    J Biomol Struct Dyn; 2023 Jul; 41(11):5261-5276. PubMed ID: 35694994
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.