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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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Bibliografische gegevens
Gepubliceerd in:CEN Case Rep
Hoofdauteurs: Bitsori, Maria, Vergadi, Eleni, Galanakis, Emmanouil
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Japan 2018
Onderwerpen:
Online toegang: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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