|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.
|
27066452 |
2016 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.
|
27066452 |
2016 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
|
21962599 |
2012 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
|
20696606 |
2011 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
MGD |
To better understand carnitine palmitoyltransferase 1a (liver isoform, gene=Cpt-1a, protein=CPT-1a) deficiency in human disease, we developed a gene knockout mouse model.
|
16169268 |
2006 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
To better understand carnitine palmitoyltransferase 1a (liver isoform, gene=Cpt-1a, protein=CPT-1a) deficiency in human disease, we developed a gene knockout mouse model.
|
16169268 |
2006 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
|
15363638 |
2005 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
|
16146704 |
2005 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
|
15669684 |
2004 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
|
15110323 |
2004 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
|
14517221 |
2003 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
|
14517221 |
2003 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
|
12111367 |
2002 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
|
12189492 |
2002 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
|
12189492 |
2002 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
|
12189492 |
2002 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.
|
11350183 |
2001 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
|
11441142 |
2001 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
|
11350182 |
2001 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
|
11350182 |
2001 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
|
11441142 |
2001 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
|
9691089 |
1998 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
|
9691089 |
1998 |
|
Carnitine palmitoyl transferase 1A deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Availability of the human CPT I cDNA should open the way to an understanding of the genetic basis of inherited CPT I deficiency syndromes, how the liver CPT I gene is regulated, and which tissues other than liver express this particular variant of the enzyme.
|
7892212 |
1995 |