infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

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ID: 200090
2016
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Ranked #60 of 126 articles by views in 15th ibero-american conference on software engineering, cibse 2012

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Abstract
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a half-year-old Indian boy with infantile nephropathic cystinosis that presented with the incomplete Fanconi syndrome, hydro-uretero-nephrosis with megacystis, and hypothyroidism.
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more2016saudiinfantile Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Vaishali More;Preeti Shanbag
Journal 15th ibero-american conference on software engineering, cibse 2012
Year 2016
DOI
10.4103/1319-2442.182438
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