Condition: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
rs1057517477 in
CPT2 gene and
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
PMID 11855939 2002 A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.
PMID 16615913 2006 The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.
PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
PMID 10862092 2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
PMID 8651281 1996 Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
PMID 14615409 2003 Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
PMID 11477613 2001 Antenatal presentation of carnitine palmitoyltransferase II deficiency.
PMID 15622536 2005 Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
PMID 9600456 1998 Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
PMID 7711730 1995 Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
PMID 1528846 1992 Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.
PMID 9758712 1998 Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
PMID 8358442 1993 Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
PMID 10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.
PMID 14605500 2003 Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
PMID 15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PMID 18363739 2008 Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
PMID 25919294 2015 Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events.
PMID 23700290 2013 Fatty Acid oxidation disorders in a chinese population in taiwan.
PMID 12673791 2003 Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
PMID 22854105 2013 Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.
PMID 21227726 2011 Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.