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Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report
BACKGROUND: Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia. CASE REPORT: A 15-year-old male who had been diagnosed with cerebral palsy was referred to our...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034128/ https://www.ncbi.nlm.nih.gov/pubmed/31985336 http://dx.doi.org/10.1080/0886022X.2020.1713805 |