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Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics

INTRODUCTION: Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug‐induced toxicity. CASE PRESENTATION: We identified three patients with xanthinuria using gas chromatography/mass spectrometry...

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Detalles Bibliográficos
Autores principales: Kuhara, Tomiko, Tetsuo, Masahiro, Ohse, Morimasa, Shirakawa, Toshihiko, Nakashima, Yumiko, Yoshiura, Koh‐ichiro, Tanaka, Nagaaki, Taya, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10622199/
https://www.ncbi.nlm.nih.gov/pubmed/37928284
http://dx.doi.org/10.1002/iju5.12642