Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.
Linthorst
Gabor E
GE
Poorthuis
Ben J H M
BJ
Hollak
Carla E M
CE
D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000191:economics; D006579:Heterozygote; D006801:Humans; D000519:alpha-Galactosidase / Q000097:blood* / Q000235:genetics
D000519:alpha-Galactosidase