Successful Management of a Neglected Case of Nephropathic Cystinosis

Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-threatening complication. Treatment with cyst...

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Bibliografske podrobnosti
Main Authors: El-Naggari, Mohamed A., Elnour, Ibtisam, Al-Kindy, Hussein, Al-Shahrabally, Aamir, Abdelmogheth, Anas A.
Format: Artigo
Jezik:Inglês
Izdano: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2014
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3997544/
https://ncbi.nlm.nih.gov/pubmed/24790750
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