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l-2-hydroxyglutaric aciduria (156) 156
humans (96) 96
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glutarates - urine (29) 29
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biochemistry & molecular biology (22) 22
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d-2-hydroxyglutaric aciduria (20) 20
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alcohol oxidoreductases - genetics (18) 18
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isocitrate dehydrogenase - genetics (17) 17
brain diseases, metabolic, inborn - genetics (16) 16
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oncometabolite 2-hydroxyglutarate (15) 15
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2-hydroxyglutarate (10) 10
brain diseases, metabolic, inborn - metabolism (10) 10
brain diseases, metabolic, inborn - pathology (10) 10
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Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 273 - 277
Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | IDH2 MUTATIONS | ACTIVATION | INHIBITION | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DIFFERENTIATION | BRAIN | Brain Neoplasms - etiology | Humans | Brain Neoplasms - pathology | ErbB Receptors - genetics | Male | Positron-Emission Tomography | Brain Neoplasms - metabolism | Brain Neoplasms - surgery | Brain Diseases, Metabolic, Inborn - diagnosis | Alcohol Oxidoreductases - genetics | Young Adult | Astrocytoma - pathology | Neoplasm Grading | Time Factors | Neoplasms, Second Primary - genetics | Brain Diseases, Metabolic, Inborn - genetics | Astrocytoma - genetics | Astrocytoma - metabolism | Brain Diseases, Metabolic, Inborn - complications | Genetic Predisposition to Disease | Brain Diseases, Metabolic, Inborn - metabolism | Risk Factors | Brain Neoplasms - genetics | Alcohol Oxidoreductases - metabolism | In Situ Hybridization, Fluorescence | Treatment Outcome | Neoplasms, Second Primary - etiology | Magnetic Resonance Imaging | Neoplasms, Second Primary - metabolism | Biopsy | Glutarates - metabolism | Mutation | Astrocytoma - etiology | Neoplasms, Second Primary - pathology | Astrocytoma - surgery | Enantiomers | Yuan (China) | Gliomas | cerebral neoplasm | IDH1 mutation | magnetic resonance imaging | L-2-hydroxyglutaric aciduria | positron emission tomography
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 09/2018, Volume 19, Issue 1, pp. 167 - 5
Background: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have... 
L-2-Hydroxyglutaric aciduria | L2HGDH | Mutation | GENETICS & HEREDITY | Flavin-Adenine Dinucleotide - chemistry | Frameshift Mutation | Exons | Humans | Infant | Male | Mutation, Missense | NADP - chemistry | Alcohol Oxidoreductases - genetics | Flavin-Adenine Dinucleotide - metabolism | DNA Mutational Analysis | Base Sequence | Brain Diseases, Metabolic, Inborn - pathology | Female | Protein Interaction Domains and Motifs | NADP - metabolism | Brain Diseases, Metabolic, Inborn - genetics | Gene Expression | Protein Structure, Secondary | Models, Molecular | Alcohol Oxidoreductases - metabolism | Genes, Recessive | Brain Diseases, Metabolic, Inborn - ethnology | Homozygote | Magnetic Resonance Imaging | Alcohol Oxidoreductases - chemistry | Pedigree | Brain Diseases, Metabolic, Inborn - diagnostic imaging | Heterozygote | Rare diseases | Case studies | Gene mutations | Genetic research | Metabolic diseases | Genetic aspects | Oxidoreductases | Health aspects | Pediatrics | Nuclear magnetic resonance--NMR | Dehydrogenases | Laboratories | Epilepsy | Aciduria | Frameshift mutation | Cerebrospinal fluid | Mental retardation | Proteins | Missense mutation | Metabolites | Urine | Mass spectroscopy | Metabolism | Patients | Chromatography | NAD | Gas chromatography | 2-Hydroxyglutarate dehydrogenase | Magnetic resonance imaging | Alleles | Scientific imaging | Mass spectrometry
Journal Article
World Neurosurgery, ISSN 1878-8750, 02/2018, Volume 110, pp. 288 - 290
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 2, pp. 358 - 360
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 11/2009, Volume 31, Issue 11, pp. 865 - 869
Heritable diseases associated with childhood tumors are sometimes defined as a probable etiologic factor or a coincidence. First of all, we must know the... 
Medulloblastoma | L-2-hydroxyglutaric aciduria | Children | ONCOLOGY | medulloblastoma | children | DISEASE | PEDIATRICS | PATIENT | HEMATOLOGY | CHILD
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 3/2014, Volume 81, Issue 3, pp. 296 - 298
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly,... 
Pediatrics | Medicine & Public Health | Gynecology | Children | Amino acid metabolism | L-2-Hydroxyglutaric aciduria | India | L-2-hydroxyglutaric aciduria | PEDIATRICS | PATIENT | Amino acidmetabolism | Female | Male | Brain Diseases, Metabolic, Inborn | Child | Humans | Adolescent | Medical colleges | Family | Seizures (Medicine) | Epilepsy
Journal Article
Balkan Journal of Medical Genetics, ISSN 1311-0160, 12/2019, Volume 22, Issue 2, pp. 93 - 96
Journal Article
European Journal of Radiology Open, ISSN 2352-0477, 2016, Volume 3, pp. 245 - 250
l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive... 
Spectroscopy | l-2-Hydroxyglutaric aciduria | MRI | Leukoencephalopathy | L-2-Hydroxyglutaric aciduria
Journal Article
Toxicology in Vitro, ISSN 0887-2333, 08/2017, Volume 42, pp. 47 - 53
Journal Article