Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant

Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene. Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family...

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Egile Nagusiak:	Wei Zhou, Huizhong Li, Li Yang
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Elsevier 2025-03-01
Saila:	Molecular Genetics and Metabolism Reports
Gaiak:	VLCADD ACADVL gene Novel variant Newborn screening
Sarrera elektronikoa:	http://www.sciencedirect.com/science/article/pii/S221442692400137X
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