[Prenatal diagnosis of enzyme defects illustrated by a case of angiokeratoma corporis diffusum (Fabry's disease)].
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005696:Galactosidases / Q000378:metabolism; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005696:Galactosidases
Praenatal diagnostik af enzymdefekter belyst ved et tilfaelde af undersøgelse for angiokeratoma corporis diffusum (Fabry's sygdom)