about
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic reviewProbing conformational states of glutaryl-CoA dehydrogenase by fragment screeningAmmonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type IClinical pearls in pediatric neurology.A diagnostic approach for cerebral palsy in the genomic era.Glutaric aciduria type 1 in Korea: report of two novel mutations.Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons.Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.Educational paper: Abusive Head Trauma part I. Clinical aspects.Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolismMitochondrial metabolites extend lifespan.Sirtuin activation as a therapeutic approach against inborn errors of metabolism.Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry.Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.Neurotoxic effects of trans-glutaconic acid in rats.Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neuronsCompound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.Glutaric aciduria type 1: neuroimaging features with clinical correlation.Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Glutaric acidemia type 1
@ast
Glutaric acidemia type 1
@en
type
label
Glutaric acidemia type 1
@ast
Glutaric acidemia type 1
@en
prefLabel
Glutaric acidemia type 1
@ast
Glutaric acidemia type 1
@en
P2860
P356
P1476
Glutaric acidemia type 1
@en
P2093
Gary L Hedlund
Marzia Pasquali
P2860
P356
10.1002/AJMG.C.30088
P50
P577
2006-05-01T00:00:00Z