×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
BEFREE
Our results broaden the mutational spectrum of ACAD8 and improve the understanding of the clinical phenotype of IBDHD .
30253142
2018
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
Our results broaden the mutational spectrum of ACAD8 and improve the understanding of the clinical phenotype of IBDHD .
30253142
2018
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.
28053874
2017
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
24635911
2015
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
CLINVAR
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
25689098
2015
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GermlineCausalMutation
disease
ORPHANET
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
24635911
2015
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
BEFREE
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD) ), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
25111118
2014
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.
21659959
2011
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
CLINVAR
In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency , 10 missense mutations were identified in ACAD8 .
17304052
2007
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency , 10 missense mutations were identified in ACAD8 .
17304052
2007
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
BEFREE
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.
17924841
2007
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
CLINVAR
IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD , as the gene responsible for IBD deficiency .
16857760
2006
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
UNIPROT
IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD , as the gene responsible for IBD deficiency .
16857760
2006
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD , as the gene responsible for IBD deficiency .
16857760
2006
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
Isobutyryl-CoA dehydrogenase deficiency : isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency : isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CLINGEN
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
GeneticVariation
disease
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
CausalMutation
disease
CLINVAR
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
0.730
Biomarker
disease
CTD_human