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...

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Detalles Bibliográficos
Autores principales: Ambarsari, Cahyani Gita, Cahyadi, Daffodilone, Sari, Lenny, Satria, Oryza, Sahli, Felly, Darmadi, Thyrza Laudamy, Kadaristiana, Agustina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Brief Report
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

Internet

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

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