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...
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| Format: | Book |
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Frontiers Media S.A.,
2022-12-01T00:00:00Z.
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A1234.567 |
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