Associated Papers
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.
Alatawi A et al.
Clinical Genetics, 2026
Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.
Heckmann K et al.
Jimd Reports, 2024
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Aldosary M et al.
Jimd Reports, 2021
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
Iuso A et al.
Jimd Reports, 2019
Select a paper to view details