Publications by authors named "Paloma C Jolin Garcia"
Mol Genet Metab Rep
December 2022
Article Synopsis
- * A study identified additional seven patients with biallelic MDH2 variants, contributing to the largest cohort observed, which includes diverse backgrounds and various pathological conditions.
- * MDH2 deficiency leads to significant biochemical markers (like elevated plasma lactate) and specific neuroimaging findings, and it is linked to conditions such as Leigh syndrome and infantile epileptic encephalopathy.
