Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
about
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic reviewProbing conformational states of glutaryl-CoA dehydrogenase by fragment screeningNatural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyInteraction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteinsRare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.A diagnostic approach for cerebral palsy in the genomic era.Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.Glutaric acid-mediated apoptosis in primary striatal neuronsGlutaric aciduria type 1 in Korea: report of two novel mutations.Diagnosis and management of glutaric aciduria type I--revised recommendations.Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons.Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.Glutaric acidemia type 1Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.Neurotoxic effects of trans-glutaconic acid in rats.Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.Promising outcomes in glutaric aciduria type I patients detected by newborn screening.Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.Organic acidurias in adults: late complications and management.
P2860
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P2860
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
description
2004 nî lūn-bûn
@nan
2004 թուականին հրատարակուած գիտական յօդուած
@hyw
2004 թվականին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@ast
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@en
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@nl
type
label
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@ast
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@en
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@nl
prefLabel
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@ast
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@en
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@nl
P2093
P3181
P1476
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
@en
P2093
B Merinero
E Christensen
J Zschocke
P3181
P356
10.1023/B:BOLI.0000045770.93429.3C
P407
P577
2004-01-01T00:00:00Z
P6179
1026556431