Condition: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL


rs1057517477 in CPT2 gene and CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL PMID 11855939 2002 A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

PMID 16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

PMID 16615913 2006 The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment.

PMID 10862092 2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

PMID 18363739 2008 Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.

PMID 23700290 2013 Fatty Acid oxidation disorders in a chinese population in taiwan.

PMID 25919294 2015 Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events.

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 22854105 2013 Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.

PMID 12673791 2003 Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

PMID 21227726 2011 Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.