Associated Papers
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
Murphey K et al.
American Journal of Medical Genetics. Part A, 2022
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
34469436 (PubMed )
Supplement: pone.0255933.s002.pdf
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A et al.
Human Mutation, 2019
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_knownBP
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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