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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We report functional studies on the mutant CACT proteins from a severe and a mild patient with CACT deficiency.
|
11162577 |
2001 |
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 |
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 |
SSIEM 2015 Annual Symposium : Lyon, France, August 2015.
|
26238931 |
2015 |
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 |
CausalMutation
|
disease |
CLINVAR |
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
|
10697964 |
2000 |
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: experience with four cases in Spain and review of the literature.
|
25614308 |
2015 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
|
27066551 |
2015 |
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 |
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 |
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 |
CTD_human |
|
|
|
Carnitine-Acylcarnitine Translocase Deficiency
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
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 |
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
|
12859414 |
2003 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
|
9399886 |
1997 |
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 |