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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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Bibliografiske detaljer
Main Authors: Wilmer, Martijn J., Schoeber, Joost P., van den Heuvel, Lambertus P., Levtchenko, Elena N.
Format: Artigo
Sprog:Inglês
Udgivet: Springer-Verlag 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3016220/
https://ncbi.nlm.nih.gov/pubmed/20734088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-010-1627-6
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