Gewählte Publikation:
Sass, JO; Kishikawa, M; Puttinger, R; Reiss, J; Erwa, W; Shimizu, A; Sperl, W.
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
J Inherit Metab Dis. 2003; 26(1):80-82
Doi: 10.1023/A:1024091900547
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
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Erwa Wolfgang
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Coenzymes -
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Female -
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Homocysteine - blood
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Humans -
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Infant, Newborn -
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Magnetic Resonance Imaging -
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Metal Metabolism, Inborn Errors - blood
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Metalloproteins - deficiency
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Prealbumin - metabolism
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Pteridines -
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Spectrometry, Mass, Electrospray Ionization -
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Uric Acid - blood