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Endocrine complications during and after adolescence in a patient with cystinosis
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed b...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Society of Pediatric Endocrinology
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073166/ https://www.ncbi.nlm.nih.gov/pubmed/27777912 http://dx.doi.org/10.6065/apem.2016.21.3.174 |