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Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic character...

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Principais autores: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2021-12-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Primary carnitine deficiency
Newborn screening
SLC22A5 gene
Free carnitine
Tandem mass spectrometry
Online adgang:https://doi.org/10.1186/s13023-021-02126-3
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