Associated Papers
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Li W et al.
Bmc Neurology, 2020
Genomic analysis of a riboflavin-overproducing Ashbya gossypii mutant isolated by disparity mutagenesis.
Kato T et al.
Bmc Genomics, 2020
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A et al.
Journal of Inherited Metabolic Disease, 2018
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
Eguchi M et al.
American Journal of Medical Genetics. Part A, 2018
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2018
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A et al.
Jimd Reports, 2016
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