Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the <i>HPRT1</i> gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study...

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Hlavní autoři:	Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2024-12-01
Edice:	Diagnostics
Témata:	Lesch–Nyhan syndrome <i>HPRT1</i> gene hyperuricemia developmental delay hypotonia self-mutilation
On-line přístup:	https://www.mdpi.com/2075-4418/14/24/2809
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