Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This report describes the clinical characteristics, biochemical findings and molecular analysis of SLC25A20 gene of patients with CACTD in Guangdong.
|
31108048 |
2019 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
SSIEM 2015 Annual Symposium : Lyon, France, August 2015.
|
26238931 |
2015 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
|
25614308 |
2015 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
|
27066551 |
2015 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The mutation analysis identified homozygous IVS2-10T>G in the SLC25A20 gene in both patients, confirming the diagnosis of CACT deficiency.
|
25459972 |
2015 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
|
25459972 |
2015 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Here, we analyzed the CACT gene in 2 patients diagnosed clinically with CACT deficiency, 18 patients with non-traumatic rhabdomyolysis and 58 healthy individuals, all of whom were confirmed to have normal CPT2 genotypes.
|
24088670 |
2013 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
|
24088670 |
2013 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
CLINGEN |
In this study, we used Sanger sequencing and target array CGH to identify molecular defects in the SLC25A20 gene of patients with clinical features and an acylcarnitine profile consistent with CACT deficiency.
|
21605995 |
2011 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
|
17277394 |
2007 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Due to the urgency of prenatal diagnosis in the second family, molecular diagnosis was performed prior to demonstration of CACT enzyme deficiency, illustrating that mutation analysis is a rapid and reliable approach to first-line diagnosis of CACT deficiency.
|
16919490 |
2006 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
|
16919490 |
2006 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
15365988 |
2004 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Carnitine-acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease.
|
15159657 |
2004 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
15365988 |
2004 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
15365988 |
2004 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
|
15057979 |
2004 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.
|
12559850 |
2003 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.
|
12559850 |
2003 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
|
12859414 |
2003 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
|
11592821 |
2001 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
|
11592821 |
2001 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
|
11350184 |
2001 |
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
Biomarker
|
disease |
CLINGEN |
We report functional studies on the mutant CACT proteins from a severe and a mild patient with CACT deficiency.
|
11162577 |
2001 |