Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy

• मुख्य लेखकों: Lianlian Yang (लेखक), Hui Guo (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2022-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...