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Slow progression of renal failure in a child with infantile cystinosis

Cystinosis is a rare autosomal recessive lysosomal transport disorder, characterized by the accumulation of the aminoacid cystine and progressive dysfunction of several organs. Kidneys are severely affected, and the most frequent form, infantile nephropathic cystinosis, presents with growth failure...

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Bibliografiske detaljer
Udgivet i:CEN Case Rep
Main Authors: Bitsori, Maria, Vergadi, Eleni, Galanakis, Emmanouil
Format: Artigo
Sprog:Inglês
Udgivet: Springer Japan 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886947/
https://ncbi.nlm.nih.gov/pubmed/29446030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-018-0316-3
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