CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
|
10862092 |
2000 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.
|
11855939 |
2002 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Disorders of carnitine transport and the carnitine cycle.
|
16602102 |
2006 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.
|
16615913 |
2006 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Fatty Acid oxidation disorders in a chinese population in taiwan.
|
23700290 |
2013 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
|
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, LETHAL NEONATAL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |