title: Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.
abstract: Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised.
authors.affiliation: Department of Paediatrics, Odense University Hospital, Denmark.
authors.forename: L K
authors.initials: LK
authors.lastname: Hansen
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: E
authors.initials: E
authors.lastname: Christensen
mesh_terms: D003067:Coenzymes / Q000172:deficiency*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008667:Metalloproteins / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011621:Pteridines / Q000378:metabolism*; D013654:Taurine / Q000652:urine
chemical_list: D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D013654:Taurine; C022261:molybdopterin