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Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I
OBJECTIVES: Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197278/ https://www.ncbi.nlm.nih.gov/pubmed/37360896 http://dx.doi.org/10.1515/almed-2021-0018 |