title: Omjeroted emzyme defects.
mesh_terms: D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis