Satoshi Miyazaki Toshihiro Hamada Shinobu Sugihara Einosuke Mizuta Yusuke Endo Akira Ohtahara Koji Komatsu Masanari Kuwabara Tomoko Fukuuchi Kiyoko Kaneko Kimiyoshi Ichida Kazuhide Ogino Haruaki Ninomiya Kazuhiro Yamamoto Takashi Nakamura Ichiro Hisatome
10.2169/internalmedicine.7897-21
Intern Med
2022;61(9):1383-1386.
xdh gene endothelial function xanthinuria type1
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/35491177/
Metabolism, Inborn Errors / genetics Xanthine Dehydrogenase / deficiency Xanthine Dehydrogenase / genetics
Metabolism, Inborn Errors / genetics Xanthine Dehydrogenase / deficiency Xanthine Dehydrogenase / genetics Case Reports Female Humans Middle Aged Mutation / genetics Uric Acid Uric Acid Xanthine Dehydrogenase Xanthinuria, Type I
PMC9152847
35491177
Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
2022