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A Patient with Cystinosis Presenting Like Bartter Syndrome and Review of Literature
BACKGROUND: Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. CASE PRESENTATION: We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4(th) degree...
Autores principales: | Ertan, Pelin, Evrengul, Havva, Ozen, Serkan, Emre, Sinan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533159/ https://www.ncbi.nlm.nih.gov/pubmed/23431081 |
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