Associated Papers
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
Al Shamsi B et al.
European Journal of Human Genetics : Ejhg, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Formate rescues neural tube defects caused by mutations in Slc25a32.
Kim J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Schiff M et al.
The New England Journal of Medicine, 2016
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