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Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey
BACKGROUND: Adenine phosphoribosyltransferase deficiency is an inborn error of metabolism that can cause kidney disease from crystalline nephropathy or kidney stones. METHODS: We present three cases from a single centre with varied presentations to illustrate how increasing awareness led to better p...
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| Publicado no: | Clin Kidney J |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5162415/ https://ncbi.nlm.nih.gov/pubmed/27994857 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfw093 |
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