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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Detalles Bibliográficos
Autores principales: Balasubramaniam, Gowrie S., Arenas-Hernandez, Monica, Escuredo, Emilia, Fairbanks, Lynette, Marinaki, Tony, Mapplebeck, Sarah, Sheaff, Michael, Almond, Michael K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162415/
https://www.ncbi.nlm.nih.gov/pubmed/27994857
http://dx.doi.org/10.1093/ckj/sfw093

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