Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review
Xuebo Li, Feng Zhao, Zuliang Zhao, Xiangzhong Zhao, Hao Meng, Dianbin Zhang, Shipeng Zhao, Ming‐Xia Ding
Topics & Concepts
MedicineDecompensationCause of deathSudden deathNewborn screeningAsymptomaticCompound heterozygosityGene mutationMutationAutopsyCarnitineSudden cardiac deathHeterozygote advantageInternal medicineDiseasePediatricsBiologyGeneticsGeneAlleleMetabolism and Genetic DisordersMitochondrial Function and PathologyNeonatal Health and Biochemistry