X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
d-2-hydroxyglutaric aciduria (66) 66
humans (56) 56
index medicus (44) 44
animals (24) 24
glutarates - metabolism (23) 23
male (23) 23
d-2-hydroxyglutaric acid (21) 21
female (20) 20
mutation (20) 20
l-2-hydroxyglutaric aciduria (19) 19
isocitrate dehydrogenase - genetics (17) 17
biochemistry & molecular biology (16) 16
genetics & heredity (16) 16
glutarates - urine (16) 16
metabolism (16) 16
mutations (14) 14
clinical neurology (13) 13
infant (13) 13
enzymes (12) 12
disease (11) 11
medicine, research & experimental (11) 11
pediatrics (11) 11
rats (11) 11
2-hydroxyglutarate (10) 10
child (10) 10
child, preschool (10) 10
inhibition (10) 10
leukemia (10) 10
medicine & public health (10) 10
metabolites (10) 10
neurosciences (10) 10
oxidative stress (10) 10
physiological aspects (10) 10
brain (9) 9
dehydrogenase (9) 9
isocitrate dehydrogenase (9) 9
isocitrate dehydrogenase - metabolism (9) 9
magnetic resonance imaging (9) 9
alcohol oxidoreductases - genetics (8) 8
cancer (8) 8
endocrinology & metabolism (8) 8
gene (8) 8
identification (8) 8
oncology (8) 8
acute myeloid-leukemia (7) 7
adolescent (7) 7
amino acid metabolism, inborn errors - genetics (7) 7
article (7) 7
biochemistry, general (7) 7
cell biology (7) 7
genetic aspects (7) 7
glioma - genetics (7) 7
gliomas (7) 7
glutarates - pharmacology (7) 7
ketoglutaric acids - metabolism (7) 7
rats, wistar (7) 7
aciduria (6) 6
alcohol oxidoreductases - metabolism (6) 6
analysis (6) 6
biophysics (6) 6
brain diseases, metabolic, inborn - genetics (6) 6
gene mutations (6) 6
glioma (6) 6
isocitrate dehydrogenase 1 (6) 6
metabolic diseases (6) 6
mice (6) 6
mitochondria (6) 6
mutation - genetics (6) 6
oxidoreductases (6) 6
research (6) 6
acidemia (5) 5
adult (5) 5
amino acid metabolism, inborn errors - metabolism (5) 5
brain - pathology (5) 5
brain neoplasms - genetics (5) 5
care and treatment (5) 5
coa dehydrogenase-deficiency (5) 5
creatine-kinase activity (5) 5
d-2-hydroxyglutarate (5) 5
deficiency (5) 5
diagnosis, differential (5) 5
expression (5) 5
glutarates - blood (5) 5
human genetics (5) 5
hydroxyacid-oxoacid transhydrogenase (5) 5
infant, newborn (5) 5
internal medicine (5) 5
mass spectrometry (5) 5
mitochondria - metabolism (5) 5
oncometabolite 2-hydroxyglutarate (5) 5
prenatal-diagnosis (5) 5
seizures (5) 5
tandem mass-spectrometry (5) 5
tumors (5) 5
alpha-ketoglutarate (4) 4
amino acid metabolism, inborn errors - physiopathology (4) 4
biomarkers (4) 4
brain diseases, metabolic, inborn - metabolism (4) 4
brain diseases, metabolic, inborn - pathology (4) 4
brain diseases, metabolic, inborn - urine (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Methods in Molecular Biology, ISSN 1064-3745, 2017, Volume 1633, pp. 219 - 234
Journal Article
Neurochemistry International, ISSN 0197-0186, 10/2016, Volume 99, pp. 72 - 84
Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second... 
Succinic semialdehyde dehydrogenase deficiency (SSADHD) | Pathogenic mutations | GHB (4-hydroxybutyric acid) | GWAS | Pathophysiology | Genome wide association study | Oxidative damage | Multifactorial traits | Mitophagy | Polymorphisms | SNP (single nucleotide polymorphism) | Autophagy | Knockout mouse model | GABAergic neurotransmission | GABA (4-aminobutyric acid) | Neurological disease | Crystal structure | GAMMA-HYDROXYBUTYRIC ACID | ALDEHYDE DEHYDROGENASE | NEUROLOGICAL DISORDERS | REDOX-SWITCH MODULATION | OXIDATIVE STRESS | MICE DEFICIENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROSCIENCES | 4-HYDROXYBUTYRIC ACIDURIA | ALDH5A1 MUTATION | D-2-HYDROXYGLUTARIC ACID | HUMAN-BRAIN | Developmental Disabilities - physiopathology | Developmental Disabilities - metabolism | gamma-Aminobutyric Acid - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Succinate-Semialdehyde Dehydrogenase - genetics | Genetic Association Studies - methods | Developmental Disabilities - genetics | Succinate-Semialdehyde Dehydrogenase - deficiency | Multifactorial Inheritance - physiology | Amino Acid Metabolism, Inborn Errors - metabolism | Animals | Amino Acid Metabolism, Inborn Errors - genetics | Succinate-Semialdehyde Dehydrogenase - metabolism | Analysis | Genes | Epilepsy | Physiological aspects | GABA | Single nucleotide polymorphisms | Gene expression | Medical research | Enzymes | Nervous system diseases | Genomics | Crystals | Medicine, Experimental | Structure | autophagy | multifactorial traits | neurological disease | oxidative damage | pathogenic mutations | knockout mouse model | polymorphisms | mitophagy | succinic semialdehyde dehydrogenase deficiency (SSADHD) | pathophysiology | crystal structure | genome wide association study
Journal Article
Journal Article
Journal Article
Nature, ISSN 0028-0836, 12/2009, Volume 462, Issue 7274, pp. 739 - 744
Journal Article
Journal Article
Toxicology in Vitro, ISSN 0887-2333, 08/2017, Volume 42, pp. 47 - 53
-2-hydroxyglutaric (D-2-HGA) and -2-hydroxyglutaric (L-2-HGA) acidurias are rare neurometabolic disorders biochemically characterized by increased levels of... 
Oxidative stress | l-2-hydroxyglutaric aciduria | d-2-hydroxyglutaric aciduria | l-carnitine | DNA damage | D-2-hydroxyglutaric aciduria | L-2-hydroxyglutaric aciduria | L-carnitine | ANTIOXIDANT ACTIVITY | INDIVIDUAL CELLS | RATS | L-2 HYDROXYGLUTARIC ACIDURIA | LEUKOCYTES | L2HGDH GENE | URINE | CEREBELLUM | TOXICOLOGY | MUTATIONS | LYMPHOCYTES | DNA Damage - drug effects | Reactive Nitrogen Species - urine | Dinoprost - urine | Guanine - analogs & derivatives | Brain Diseases, Metabolic, Inborn - urine | Humans | Child, Preschool | Comet Assay | Tyrosine - analogs & derivatives | Young Adult | Tyrosine - urine | Carnitine - pharmacology | Protective Agents - pharmacology | Adolescent | Glutarates - toxicity | Guanine - urine | Adult | Leukocytes - drug effects | Dinoprost - analogs & derivatives | Oxidative Stress - drug effects | Brain Diseases, Metabolic, Inborn - genetics | Child | Leukocytes - metabolism | Levocarnitine | Care and treatment | DNA | Proteins | Physiological aspects | Liquid chromatography | Mass spectrometry | Reactive nitrogen species | Aciduria | Leukocytes | DNA repair | Damage prevention | Guanine | Organic acids | Tissue | L-Carnitine | Bioindicators | Deoxyribonucleic acid--DNA | Urine | Tyrosine | Chemical compounds | Patients | Carnitine | White blood cells | Isoprostanes | Biomarkers | Metabolic pathways | Mutation | Metabolic disorders | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 627 - 631
Journal Article