Results 101 to 110 of about 766 (123)

Prevalence of Monogenic Aetiologies of Kidney Stone Disease in Selected and Unselected Kidney Stone Cohorts

open access: yes
Lovegrove C   +10 more
europepmc   +1 more source

Genome scale metabolic network modelling for metabolic profile predictions. [PDF]

open access: yesPLoS Comput Biol
Cooke J   +8 more
europepmc   +1 more source

Mutations Associated With Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans

open access: yesInternational Journal of Molecular Sciences, 2012
Xanthine oxidoreductase (XOR) catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O2.
Kimiyoshi Ichida   +2 more
exaly   +2 more sources

XDH Gene Mutation Is the Underlying Cause of Classical Xanthinuria: A Second Report

open access: yesKidney International, 2000
XDH gene mutation is the underlying cause of classical xanthinuria: A second report.BackgroundClassical xanthinuria is a rare autosomal recessive disorder characterized by excessive excretion of xanthine in urine. Type I disease results from the isolated
Hava Peretz   +2 more
exaly   +2 more sources

Identification of a Xanthinuria Type I Case With Mutations of Xanthine Dehydrogenase in an Afghan Child

open access: yesClinica Chimica Acta, 2012
Xanthinuria due to xanthine dehydrogenase (XDH) deficiency is a rare genetic disorder characterized by hypouricemia and the accumulation of xanthine in the urine.
Kimiyoshi Ichida   +2 more
exaly   +2 more sources

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