title: Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: Ben J H M
authors.initials: BJ
authors.lastname: Poorthuis
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
mesh_terms: 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
chemical_list: D000519:alpha-Galactosidase