×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
BEFREE
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency .
31268215
2019
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
CLINVAR
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
31268215
2019
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
31268215
2019
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
BEFREE
Beta-ketothiolase deficiency (BKTD ) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase .
31156707
2019
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
28726122
2018
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
Biomarker
disease
BEFREE
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism.
28255778
2017
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
28220263
2017
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
28689740
2017
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
BEFREE
Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency , is an autosomal recessive disease caused by mutations in the acetyl‑CoA acetyltransferase 1 (ACAT1) gene.
27748876
2016
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
27748876
2016
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
CLINVAR
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].
27264805
2016
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
Biomarker
disease
BEFREE
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency .
23920042
2014
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
CLINVAR
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
24517888
2014
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
Biomarker
disease
CLINGEN
Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.
24309898
2014
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
Biomarker
disease
BEFREE
Beta-ketothiolase deficiency, or mitochondrial acetoacetyl-CoA thiolase (T2) deficiency , is a rare autosomal recessive disorder affecting isoleucine catabolism and ketone body metabolism.
23958592
2014
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GermlineCausalMutation
disease
ORPHANET
She was not suspected of having T2 deficiency during her childhood, but she was diagnosed as T2 deficient at the age of 25 years by enzyme assay using fibroblasts.
23430882
2012
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
21669895
2011
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
CLINVAR
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
21669895
2011
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
BEFREE
A common mutation, R208X , identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency .
20156697
2010
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
20046049
2010
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
20156697
2010
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
BEFREE
We identified and characterized a point mutation (c.1124A>G) in an Australian patient (GK43) with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency .
18511318
2008
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
Biomarker
disease
CLINGEN
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism.
17236799
2007
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
GeneticVariation
disease
CLINVAR
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism.
17236799
2007
×
Entrez Id:
38
Gene Symbol:
ACAT1
ACAT1
0.800
CausalMutation
disease
CLINVAR
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism.
17236799
2007