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Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by abnormal accumulation of intracellular cystine in various tissues including the brain, kidneys, bones, and eyes. Infantile nephropathic cystinosis is the most severe phenotype of cystinosis that has been associated...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer - Medknow
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866722/ https://www.ncbi.nlm.nih.gov/pubmed/33575541 http://dx.doi.org/10.4103/1319-4534.305049 |