title: Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
authors.affiliation: Department of Pediatrics, University of Innsbruck, Austria.
authors.forename: J O
authors.initials: JO
authors.lastname: Sass
authors.forename: M
authors.initials: M
authors.lastname: Kishikawa
authors.forename: R
authors.initials: R
authors.lastname: Puttinger
authors.forename: J
authors.initials: J
authors.lastname: Reiss
authors.forename: W
authors.initials: W
authors.lastname: Erwa
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
authors.forename: W
authors.initials: W
authors.lastname: Sperl
mesh_terms: D003067:Coenzymes; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008664:Metal Metabolism, Inborn Errors / Q000097:blood*; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D011228:Prealbumin / Q000378:metabolism*; D011621:Pteridines; D021241:Spectrometry, Mass, Electrospray Ionization; D014527:Uric Acid / Q000097:blood
chemical_list: D003067:Coenzymes; D006710:Homocysteine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011228:Prealbumin; D011621:Pteridines; D014527:Uric Acid; C022261:molybdopterin