Intermediate cystinosis: a case report of 10-year treatment with cysteamine
Abstract Background Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases. Patients with intermediate cystinosis may not exhibit th...
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| Автори: | , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2024-08-01
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| Серія: | BMC Nephrology |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s12882-024-03722-8 |
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