Nephropathic Cystinosis: First reported case in Oman

Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations. There are three types of cystinosis, infantile nephro...

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Autors principals: Al-Nabhani, Dana, El-Naggari, Mohammed, Al-Sinawi, Rana, Chacko, Alexander P., Ganesh, Anuradha, El Nour, Ibtisam
Format: Artigo
Idioma:Inglês
Publicat: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2011
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3206754/
https://ncbi.nlm.nih.gov/pubmed/22087400
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