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Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

BACKGROUND: Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD in Fujian Province in China mainland. METHODS: Primary carnitine deficien...

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Detalles Bibliográficos
Autores principales:	Chen, Yao, Lin, Qingying, Zeng, Yinglin, Qiu, Xiaolong, Liu, Guanghua, Zhu, Wenbin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077093/ https://www.ncbi.nlm.nih.gov/pubmed/33560599 http://dx.doi.org/10.1002/mgg3.1583

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