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Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
Lesch–Nyhan disease (LND) is a rare X-linked recessive disease caused by pathogenic mutations of the HPRT1 gene. The typical clinical manifestations include cerebral palsy, intellectual disability, dysarthria, self-injurious behavior, and gouty arthritis in children. This report describes a Chinese...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806254/ https://www.ncbi.nlm.nih.gov/pubmed/36601030 http://dx.doi.org/10.3389/fped.2022.1080486 |