The frequency of fabry disease with the E66Q variant in the α-galactosidase a gene in Japanese dialysis patients: A case report and a literature review

Clinical Nephrology

Volumn 78, Issue 3, 2012, Pages 224-229

  Kikumoto, Y ^a   Sugiyama, H ^a,b   Morinaga, H ^a   Inoue, T ^a   Takiue, K ^a   Kitagawa, M ^a   Saito, D ^a   Takatori, Y ^a   Kinomura, M ^a   Kitamura, S ^a   Akagi, S ^b   Sada, K ^a   Nakao, K ^a   Maeshima, Y ^a   Kitayama, H ^c   Makino, H ^a  

^a Clinical Science ^*  (Japan)

^b OKAYAMA UNIVERSITY   (Japan)

^c Division of Internal Medicine   (Japan)

Author keywords

galactosidase A; E66Q variant; Fabry disease; Hemodialysis; Screening

Indexed keywords

ALPHA GALACTOSIDASE;

AGED; ARTICLE; ASPIRATION PNEUMONIA; CASE REPORT; ENZYME ACTIVITY; ENZYME REPLACEMENT; EXON; FABRY DISEASE; GENE; GENE MUTATION; HEMODIALYSIS; HETEROZYGOSITY; HUMAN; JAPANESE; KIDNEY FAILURE; MALE; PROTEINURIA;

AGED; ALPHA-GALACTOSIDASE; FABRY DISEASE; HUMANS; JAPAN; MALE; MUTATION; RENAL DIALYSIS; RENAL INSUFFICIENCY, CHRONIC;

EID: 84867665739     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CN107097     Document Type: Article

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