Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
Cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications. Seventeen month old girl with normal development until 14 months, when parents noted polydipsia, polyuria and growth stagnation. Investigations performed in...
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| Main Authors: | , , , , |
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| Format: | article |
| Language: | EN PT |
| Published: |
Sociedade Portuguesa de Pediatria
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/bc03a2e978b642c9b88c31a33730e948 |
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