Condition: Carnitine palmitoyl transferase 2 deficiency
rs121918528 in
CPT2 gene and
Carnitine palmitoyl transferase 2 deficiency
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 16781677 2006 Crystal structure of rat carnitine palmitoyltransferase II (CPT-II).
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 22652984 2012 A new nonsense mutation is associated with dysmorphism in lethal neonatal CPTII deficiency.
PMID 12707442 2003 Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
PMID 12410208 2002 A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).
PMID 10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.
PMID 17936304 2008 Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
PMID 7711730 1995 Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
PMID 15622536 2005 Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
PMID 18306170 2008 Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
PMID 26537576 2016 Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.
PMID 28801073 2017 Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
PMID 21913903 2012 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
PMID 12673791 2003 Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
PMID 12560872 2003 A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
PMID 14605500 2003 Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
PMID 27974123 2016 [CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].
PMID 9309694 1997 P50H and D553N) appear to be rare, while the S113L mutation was found to be common in a group of European patients with CPT II deficiency.
PMID 8651281 1996 Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
PMID 24602495 2014 Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.
PMID 2762996 1989 [Women, their menopause and their body weight].
PMID 27629963 2017 First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
PMID 2647738 1989 Proteolytic modification of Escherichia coli alkaline phosphatase.
PMID 15642848 2005 Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.
PMID 24398345 2014 Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
PMID 8786066 1996 We studied an inbred family with three affected cousins with CPT II deficiency and found the S113L mutation to be present in a homozygous state in all three patients.
PMID 20810031 2011 Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
PMID 15776096 2005 Genetic analysis showed that one patient was homozygous and two were heterozygous for S113L, the common mutation in CPT II deficiency.
PMID 8358442 1993 The Ser113Leu mutation is the most frequent cause of CPT II deficiency.
PMID 23184072 2012 Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
PMID 10398215 1999 Our data indicate that the S113L is also the most common mutation in Spanish patients with CPT II deficiency in muscle, and that further pathogenic mutations remain to be identified.
PMID 28516040 2017 Genetic testing confirmed the presence of the same mutation found in his sister, a homozygous F383Y mutation in the <i>CPT2</i> gene, thus leading to the diagnosis of CPT-2 deficiency.
PMID 23700290 2013 Fatty Acid oxidation disorders in a chinese population in taiwan.
PMID 18363739 2008 These mutations differ from those in Caucasian patients, who commonly harbor p.S113L, p.P50H, and p.Q413fsX449 mutations; therefore, our data and those of other Japanese groups suggest that the p.F383Y mutation is significant in Japanese patients with CPT II deficiency.
PMID 9600456 1998 In all three families with CPT II deficiency, the E174K mutation resided only on the F1V1M1 allele, whereas the F383Y mutation was observed on the F2V2M1 allele, suggesting a single origin for each mutation.
PMID 8682496 1996 Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency.
PMID 17372854 2007 Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
PMID 9758712 1998 Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
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 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.