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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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| Foilsithe in: | CEN Case Rep |
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| Main Authors: | , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Springer Japan
2016
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| Ábhair: | |
| Rochtain Ar Líne: | 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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