title: Molecular diagnosis of inborn errors of metabolism.
authors.affiliation: Department of Metabolic Medicine, Royal Childrens Hospital, Brisbane, Queensland, Australia.
authors.forename: J J
authors.initials: JJ
authors.lastname: McGill
mesh_terms: D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis