Pages that link to "Q18553318"
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The following pages link to D-2-hydroxyglutaric aciduria (Q18553318):
Displaying 42 items.
- IDH2 (Q18027548) (← links)
- D2HGDH (Q18061346) (← links)
- (Q18932774) (redirect page) (← links)
- Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria (Q24530667) (← links)
- IDH2 mutations in patients with D-2-hydroxyglutaric aciduria (Q28293455) (← links)
- Facial anomalies in D-2-hydroxyglutaric aciduria (Q30580668) (← links)
- d‐2‐Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder? (Q34299853) (← links)
- Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins (Q34440407) (← links)
- D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? (Q34488993) (← links)
- D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect (Q36443608) (← links)
- A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. (Q37341931) (← links)
- A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies (Q39710974) (← links)
- D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? (Q42536665) (← links)
- D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings (Q43986115) (← links)
- D-2-Hydroxyglutaric aciduria and subdural haemorrhage (Q44089921) (← links)
- Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing (Q44457947) (← links)
- Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria (Q44484503) (← links)
- Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination (Q44516784) (← links)
- D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage (Q44520007) (← links)
- D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders? (Q44973770) (← links)
- D-2-hydroxyglutaric aciduria: further clinical delineation (Q48161614) (← links)
- D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction (Q48186701) (← links)
- Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients (Q48492177) (← links)
- D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle (Q48819432) (← links)
- D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses (Q52102391) (← links)
- D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis (Q52167064) (← links)
- Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). (Q55055085) (← links)
- Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2 (Q57657555) (← links)
- D-2-hydroxyglutaric aciduria: case report and biochemical studies (Q59242134) (← links)
- Cerebral organic acidurias, including diseases (Q62060121) (← links)
- D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy (Q74096134) (← links)
- D‐2‐Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity (Q74826582) (← links)
- Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria (Q83559084) (← links)
- Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria (Q88621739) (← links)
- IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (Q90291487) (← links)
- Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria (Q92205545) (← links)
- D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum (Q92343101) (← links)
- D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants (Q92600421) (← links)
- D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene (Q92736648) (← links)
- D-2-hydroxyglutaric aciduria 1 (Q102293355) (← links)
- D-2-hydroxyglutaric aciduria 2 (Q102296906) (← links)
- Wikidata:Database reports/Complex constraint violations/P492 (← links | edit)