Severe nonketotic hyperglycinaemia due to a synonymous variant

Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment. While NKH is typically associated with pathogenic variants in glycine decarboxylase (GLDC) or aminomethyltransferase,...

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Bibliografske podrobnosti

Principais autores:	Ping Pang, Lin Wan, Yan Liang, Xia Zhao, Guang Yang
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2025-12-01
Serija:	Molecular Genetics and Metabolism Reports
Teme:	Nonketotic hyperglycinemia GLDC Synonymous variants Minigene splicing assays
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2214426925000837
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