A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase

Hereditary hypouricemia is generally caused by renal hypouricemia, an autosomal recessive disorder that is characterized by impaired renal tubular uric acid transport, or by xanthinuria, a rare autosomal recessive disorder caused by a deficiency of xanthine dehydrogenase (XDH; xanthinuria type I) or...

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Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Iguchi, Akira, Sato, Takaaki, Yamazaki, Mihoko, Tasaki, Kazuyuki, Suzuki, Yasushi, Iino, Noriaki, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Narita, Ichiei
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Japan 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413754/
https://ncbi.nlm.nih.gov/pubmed/28508967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-016-0216-3
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