Condition: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE


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

PMID 18925671 2008 Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

PMID 18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile 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 9562964 1998 A novel mutation identified in carnitine palmitoyltransferase II deficiency.

PMID 23322164 2013 Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.

PMID 15622536 2005 Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 17936304 2008 Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

PMID 12410208 2002 Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation 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 20661589 2010 Post-mortem MRI reveals CPT2 deficiency after sudden infant death.

PMID 10734268 2000 Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.

PMID 8651281 1996 Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

PMID 10398215 1999 Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.

PMID 18577113 2008 Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.

PMID 20543534 2010 Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.

PMID 8682496 1996 "Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the ""hepatic"" form of carnitine palmitoyltransferase II deficiency."

PMID 22841441 2012 Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

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

PMID 9758712 1998 Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

PMID 24398345 2014 Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.

PMID 18645163 2008 Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

PMID 14605500 2003 Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

PMID 21913903 2012 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

PMID 14615409 2003 Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

PMID 15363638 2005 Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

PMID 1528846 1992 Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

PMID 23184072 2012 Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.

PMID 10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.

PMID 15642848 2005 Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.

PMID 8358442 1993 Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

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

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

PMID 18363739 2008 Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II 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 25919294 2015 Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events.

PMID 25827434 2016 Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

PMID 21709843 2009 Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival.

PMID 20810031 2011 Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.