A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population

Nephrology Dialysis Transplantation

Volumn 22, Issue 1, 2007, Pages 179-186

  Merta, Miroslav ^a   Reiterova, Jana ^a   Ledvinova, Jana ^b   Poupětová, Helena ^b   Dobrovolný, Robert ^b   Ryšavá, Romana ^a   Maixnerová, Dita ^a   Bultas, Jan ^a   Motáň, Jiří ^c   Slivkova, Jitka ^d   Sobotova, Doris ^e   Smrzova, Jana ^e   Tesař, Vladimir ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

^d Nemocnice Hospital Dialysis Centre   (Czech Republic)

^e MASARYK UNIVERSITY   (Czech Republic)

Author keywords

galactosidase A; Blood spot screening; End stage renal disease; Enzyme replacement therapy; Fabry disease; Haemodialysis

Indexed keywords

ALPHA GALACTOSIDASE; DNA; INSULIN; RNA;

ADULT; AGED; ARTICLE; BLOOD ANALYSIS; CLINICAL EFFECTIVENESS; CONTROLLED STUDY; CZECH REPUBLIC; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME REPLACEMENT; FABRY DISEASE; FAMILY ASSESSMENT; FEMALE; FLUORESCENCE ANALYSIS; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HEMODIALYSIS PATIENT; HUMAN; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LEUKOCYTE; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MUTATIONAL ANALYSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; URINALYSIS;

ADULT; AGED; ALPHA-GALACTOSIDASE; CZECH REPUBLIC; ENZYMES; FABRY DISEASE; FEMALE; HUMANS; LYSOSOMES; MALE; MIDDLE AGED; PEDIGREE; PROTEIN CONFORMATION; RENAL DIALYSIS; SPECTROMETRY, FLUORESCENCE;

EID: 33845986344     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl528     Document Type: Article

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