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Cystinosis: practical tools for diagnosis and treatment

Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of lif...

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Detalles Bibliográficos
Autores principales: Wilmer, Martijn J., Schoeber, Joost P., van den Heuvel, Lambertus P., Levtchenko, Elena N.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3016220/
https://www.ncbi.nlm.nih.gov/pubmed/20734088
http://dx.doi.org/10.1007/s00467-010-1627-6