Implementation of high-throughput screening for Fabry disease in Toronto dialysis patients [5]

NDT Plus

Volumn 1, Issue 2, 2008, Pages 129-130

  Rasaiah, Vanessa I ^a   Underwood, John P ^b   Oreopoulos, Dimitrios G ^a   Medin, Jeffrey A ^a,c  

^a PRINCESS MARGARET HOSPITAL   (Canada)

^b TORONTO WESTERN HOSPITAL   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

BLOOD ANALYSIS; CANADA; CONTROLLED STUDY; ENZYME ACTIVITY; FABRY DISEASE; GENERAL HOSPITAL; HEMODIALYSIS PATIENT; HIGH THROUGHPUT SCREENING; HUMAN; KIDNEY FAILURE; LETTER; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; NORMAL VALUE; PILOT STUDY; PRIORITY JOURNAL; SCREENING TEST; X CHROMOSOME LINKED DISORDER;

EID: 41749100183     PISSN: 17530784     EISSN: 17530792     Source Type: Journal    
DOI: 10.1093/ndtplus/sfn009     Document Type: Letter

References (6)

1. Brady RO, Shiffmann R. Clinical features and recent advances in therapy for Fabry disease. JAMA 2000; 284: 2771-2775
2. Sessa A, Meroni M, Battini G et al. Renal involvement in Anderson-Fabry disease. J Nephrol 2003; 16: 310-313
3. Ichinose M, Nakayama M, Ohashi T et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 2005; 9: 228-232
4. Merta, M, Reiterova J, Ledvinova J et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007; 22: 179-186
5. Poeppl AG, Murray GJ, Medin JA. Enhanced filter paper enzyme assay for high-throughput population screening for Fabry disease. Anal Biochem 2005; 337: 161-163
6. Fletcher JM. Screening for lysosomal storage disorders - a clinical perspective. J Inherit Metab Dis 2006; 29: 405-408