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Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans
Kimiyoshi Ichida et al.
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J. Reiss et al.
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M. Arenas et al.
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Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
S Leimkühler et al.
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WH Tan et al.
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A mechanism of sulfite neurotoxicity - Direct inhibition of glutamate dehydrogenase
X Zhang et al.
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J Reiss et al.
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