|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events.
|
25919294 |
2015 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.
|
22854105 |
2013 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Fatty Acid oxidation disorders in a chinese population in taiwan.
|
23700290 |
2013 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.
|
21227726 |
2011 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
|
18550408 |
2008 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
|
18363739 |
2008 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
|
16996287 |
2006 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.
|
16615913 |
2006 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Disorders of carnitine transport and the carnitine cycle.
|
16602102 |
2006 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
|
15622536 |
2005 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
|
15489334 |
2004 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
|
14605500 |
2003 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
|
12673791 |
2003 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
|
14615409 |
2003 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.
|
11855939 |
2002 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Antenatal presentation of carnitine palmitoyltransferase II deficiency.
|
11477613 |
2001 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
|
10862092 |
2000 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.
|
10873395 |
2000 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
|
10090476 |
1999 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
|
9600456 |
1998 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
|
9600456 |
1998 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
|
9758712 |
1998 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
|
8651281 |
1996 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
|
7711730 |
1995 |
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
|
8358442 |
1993 |