The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.
van Gennip
A H
AH
Academic Medical Center (AMC) Amsterdam, Division of Pediatrics, The Netherlands.
Abeling
N G
NG
Stroomer
A E
AE
Overmars
H
H
Bakker
H D
HD
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
D000596:Amino Acids; D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; D011687:Purines; D013431:Sulfates; C022261:molybdopterin