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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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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3997544/ https://ncbi.nlm.nih.gov/pubmed/24790750 |
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