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Fanconi syndrome with lysinuric protein intolerance

We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome, with glucosuria, generalized aminoaciduria, p...

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Detalles Bibliográficos
Autores principales: Riccio, Eleonora, Pisani, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389143/
https://www.ncbi.nlm.nih.gov/pubmed/25859380
http://dx.doi.org/10.1093/ckj/sfu107