Structural and immunocytochemical studies on α -N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease)

Journal of Human Genetics

Volumn 49, Issue 1, 2004, Pages 1-8

  Sakuraba, Hitoshi ^a   Matsuzawa, Fumiko ^b   Aikawa, Sei Ichi ^b   Doi, Hirofumi ^b   Kotani, Masaharu ^a   Nakada, Hiroshi ^c   Fukushige, Tomoko ^d   Kanzaki, Tamotsu ^d  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b Celestar Lexico Sciences Inc   (Japan)

^c KYOTO SANGYO UNIVERSITY   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

N acetylgalactosaminidase deficiency; Homology modeling; Kanzaki disease; Schindler disease; Tn antigen

Indexed keywords

ALPHA N ACETYLGALACTOSAMINIDASE; ANTIGEN; SIALOGLYCOPROTEIN; TN ANTIGEN; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME STRUCTURE; FABRY DISEASE; FIBROBLAST; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; KANZAKI DISEASE; LYSOSOME; MOLECULAR MODEL; NEUROAXONAL DYSTROPHY; PATHOGENESIS; PHENOTYPE; PROTEIN DOMAIN; SCHINDLER DISEASE; SEQUENCE HOMOLOGY; URINARY EXCRETION;

ALPHA-N-ACETYLGALACTOSAMINIDASE; ANTIGENS, CD; ANTIGENS, TUMOR-ASSOCIATED, CARBOHYDRATE; CRYSTALLOGRAPHY; FABRY DISEASE; FIBROBLASTS; HEXOSAMINIDASES; HUMANS; IMMUNOHISTOCHEMISTRY; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MODELS, MOLECULAR; NEUROAXONAL DYSTROPHIES; PROTEIN STRUCTURE, TERTIARY; STRUCTURAL HOMOLOGY, PROTEIN;

EID: 0442309576     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0098-z     Document Type: Article

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