Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease

Experimental and Molecular Medicine

Volumn 41, Issue 1, 2009, Pages 1-7

  Park, Jung Young ^a   Kim, Gu Hwan ^a   Kim, Sung Su ^a   Ko, Jung Min ^a   Lee, Jin Joo ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

1 deoxygalactonojirimycin; Fabry disease; Globotriaosylceramide; Lysosomal storage diseases; galactosidase

Indexed keywords

1 DEOXYGALACTONOJIRIMYCIN; ALPHA GALACTOSIDASE; CHAPERONE; GALACTOSE; UNCLASSIFIED DRUG; 1 DEOXYNOJIRIMYCIN; 1-DEOXYGALACTONOJIRIMYCIN; DRUG DERIVATIVE;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FABRY DISEASE; GENE FUNCTION; GENE MUTATION; HUMAN; KOREA; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTROFLUOROMETRY; WESTERN BLOTTING; ANIMAL; ASIAN; CELL STRAIN COS1; CERCOPITHECUS; ENZYMOLOGY; GENE EXPRESSION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION;

MAMMALIA;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CERCOPITHECUS AETHIOPS; COS CELLS; FABRY DISEASE; GENE EXPRESSION; HUMANS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 63849280910     PISSN: 12263613     EISSN: 20926413     Source Type: Journal    
DOI: 10.3858/emm.2009.41.1.001     Document Type: Article

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