Associated Papers
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.
Perales-Clemente E et al.
Jimd Reports, 2021
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A et al.
Human Mutation, 2019
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M et al.
Human Mutation, 2010
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys EA
Journal of Inherited Metabolic Disease, 2006
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