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Peer-reviewedCC BYCEN case reports

A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance

  • Naoyuki Otani1
  • Marie Yamamoto2
  • Tomoaki Takata2
  • Shinobu Sugihara3
  • Masanari Kuwabara4
  • Masaharu Fukuki2
  • Yusuke Endo2
  • Seiko Shimizu5
  • Akiyoshi Nakayama5
  • Akihiro Otsuki2
  • Hirotaka Matsuo5
  • Kimiyoshi Ichida6
1 more authors
  • Ichiro Hisatome2
6 affiliations
  1. 1145-1 Moritomo, Nikko City, Tochigi 321-1298 Japan
  2. 2Yonago, Japan
  3. 3Matsue, Japan
  4. 4Shimotsuke, Japan
  5. 5Tokorozawa, Saitama Japan
  6. 6Tokyo, Japan
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Cite

BibTeXRIS
BibTeX
@article{otani2026case,
  title = {{A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance}},
  author = {Naoyuki Otani and Marie Yamamoto and Tomoaki Takata and Shinobu Sugihara and Masanari Kuwabara and Masaharu Fukuki and Yusuke Endo and Seiko Shimizu and Akiyoshi Nakayama and Akihiro Otsuki and Hirotaka Matsuo and Kimiyoshi Ichida and Ichiro Hisatome},
  journal = {CEN case reports},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13658746},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance
AU  - Naoyuki Otani
AU  - Marie Yamamoto
AU  - Tomoaki Takata
AU  - Shinobu Sugihara
AU  - Masanari Kuwabara
AU  - Masaharu Fukuki
AU  - Yusuke Endo
AU  - Seiko Shimizu
AU  - Akiyoshi Nakayama
AU  - Akihiro Otsuki
AU  - Hirotaka Matsuo
AU  - Kimiyoshi Ichida
AU  - Ichiro Hisatome
PY  - 2026
DA  - 2026/10/12
JO  - CEN case reports
UR  - https://europepmc.org/article/PMC/PMC13658746
SN  - 2192-4449
ER  -