Associated Papers
Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.
Wang X et al.
Pharmacogenomics and Personalized Medicine, 2023
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Zhang T et al.
Human Mutation, 2023
Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.
Gan Y et al.
Italian Journal of Pediatrics, 2021
[Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene].
Zhou Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency.
Zhang W et al.
Frontiers in Pediatrics, 2021
[Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency].
Cui D et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
Doshi BS et al.
American Journal of Blood Research, 2014
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