Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
Sass
J O
JO
Department of Pediatrics, University of Innsbruck, Austria.
Kishikawa
M
M
Puttinger
R
R
Reiss
J
J
Erwa
W
W
Shimizu
A
A
Sperl
W
W
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
D003067:Coenzymes; D006710:Homocysteine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011228:Prealbumin; D011621:Pteridines; D014527:Uric Acid; C022261:molybdopterin