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

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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… Click to show full abstract

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.

Keywords: spectrum clinical; primary carnitine; carnitine deficiency; gene spectrum

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021

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