title: The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.
authors.affiliation: Academic Medical Center (AMC) Amsterdam, Division of Pediatrics, The Netherlands.
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: N G
authors.initials: NG
authors.lastname: Abeling
authors.forename: A E
authors.initials: AE
authors.lastname: Stroomer
authors.forename: H
authors.initials: H
authors.lastname: Overmars
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
mesh_terms: D000596:Amino Acids / Q000652:urine; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003067:Coenzymes; D006801:Humans; D007231:Infant, Newborn; D008664:Metal Metabolism, Inborn Errors / Q000652:urine*; D008667:Metalloproteins / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D011621:Pteridines / Q000378:metabolism*; D011687:Purines / Q000652:urine; D013431:Sulfates / Q000652:urine
chemical_list: D000596:Amino Acids; D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; D011687:Purines; D013431:Sulfates; C022261:molybdopterin