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The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 627 - 631
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 975 - 982
D‐2‐hydroxyglutaric aciduria Type I (D‐2‐HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH... 
D‐2‐hydroxyglutaric aciduria | functional assay | overexpression | D‐2‐HGDH | residual activity | missense variants | HETEROGENEITY | D-2-HGDH | GENETICS & HEREDITY | D-2-hydroxyglutaric aciduria | MUTATIONS | Enzymes | Analysis | Pathogenicity | Aciduria | Enzymatic activity | Mutagenesis | Metabolic disorders | Index Medicus
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 351 - 358
Journal Article
BBA - Proteins and Proteomics, ISSN 1570-9639, 11/2019, Volume 1867, Issue 11, p. 140255
D-2-hydroxyglutaric aciduria is a neurometabolic disorder, characterized by the accumulation of D-2-hydroxyglutarate (D-2HG) in human mitochondria. Increased... 
D-lactate | D-2-hydroxyglutaric aciduria | Electron transferring flavoprotein | D-2-hydroxyglutarate | HYDROXYACID-OXOACID TRANSHYDROGENASE | OXIDATION | RIBOFLAVIN | PROTEIN SECONDARY STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | IDENTIFICATION | CIRCULAR-DICHROISM SPECTROSCOPY | ACYL-COA DEHYDROGENASE | ELECTRON-TRANSFER | BIOPHYSICS | OXIDASE | SUBSTRATE
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2005, Volume 58, Issue 4, pp. 626 - 630
D‐2‐hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the... 
NEUROSCIENCES | D-2-HYDROXYGLUTARIC ACIDURIA | CLINICAL NEUROLOGY | Alcohol Oxidoreductases - genetics | Phenotype | Alcohol Oxidoreductases - urine | Amino Acid Metabolism, Inborn Errors - genetics | Humans | DNA, Recombinant | Family Health | Female | Male | Mutation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2011, Volume 155A, Issue 11, pp. 2609 - 2616
Journal Article
Toxicology in Vitro, ISSN 0887-2333, 08/2017, Volume 42, pp. 47 - 53
Journal Article