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Abbreviation : CPT II
Long Form : carnitine palmitoyltransferase II
No. Year Title Co-occurring Abbreviation
2022 A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation. MCT, TMS
2022 Lipid emulsions attenuate the inhibition of carnitine acylcarnitine translocase induced by toxic doses of local anesthetics in rat cardiomyoblasts. CACT, CPT I, MMP, NAC, ROS
2022 Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study. FAO, LCHAD, TFP, VLCAD
2021 Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F. CL, nanoDSF, WT
2021 Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation. ---
2021 Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications. ---
2021 Nutrition and Exercise in a Case of Carnitine Palmitoyl-Transferase II Deficiency. RER, RMR, RQ
2021 Successful orthotopic heart transplantation in CPTII deficiency. ---
2020 Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach. CPT
10  2020 Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening. ---
11  2020 Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency. ---
12  2019 Carnitine Inborn Errors of Metabolism. BBD, CACT, CPT I, HTMLA, TMABADH, TMLD
13  2019 Endogenous genetic risk factor for serious heatstroke: the thermolabile phenotype of carnitine palmitoyltransferase II variant. ATP, SOFA
14  2019 Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids. TFP, VLCAD
15  2019 Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency. CPT I, CS, ELISA, FGF21
16  2019 Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency. ---
17  2018 Chronic Exercise Improves Mitochondrial Function and Insulin Sensitivity in Brown Adipose Tissue. BAT, Drp1, ET, IGF-1R, IR, L-OPA1, Mfn1, NRF1, p-IRS-1, PGC-1alpha, S-OPA1, SIRT1, UCP
18  2018 Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey. VAS
19  2017 An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency. ---
20  2017 Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life. AKI
21  2017 Mitochondrial carnitine palmitoyl transferase-II inactivity aggravates lipid accumulation in rat hepatocarcinogenesis. 2-FAA, AST, HF, TCH, TG
22  2017 Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation. ---
23  2017 [Dynamic expression of carnitine palmitoyltransferase II in the mitochondrial inner membrane during hepatocyte malignant transformation induced by lipid accumulation]. AST, HF, TCH, TG
24  2016 First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L. ---
25  2016 Heat stroke with bimodal rhabdomyolysis: a case report and review of the literature. CPK
26  2016 Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. ---
27  2016 Propionate Promotes Fatty Acid Oxidation through the Up-Regulation of Peroxisome Proliferator-Activated Receptor alpha in Intestinal Epithelial Cells. PPARalpha, SCFAs, TFPalpha, TG
28  2016 [CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency]. CPT2
29  2015 Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts. ---
30  2015 Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity. ---
31  2014 Bilateral supernumerary kidneys: how much is too much? UTIs
32  2014 Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure. ---
33  2014 Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. ---
34  2014 Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. hiPSCs, MYOD1
35  2014 Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases. ACP, VLCAD
36  2014 Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency. ---
37  2014 Postinfectious Rhabdomyolysis in a 5-Year-Old Boy: When to Look a Little Deeper. ---
38  2014 SREBP-1c gene silencing can decrease lipid deposits in bovine hepatocytes cultured in vitro. ACC, APOE, HADH, LDLR, MTTP, SREBP-1c, VLDLs
39  2013 A case of recurrent acute encephalopathy with febrile convulsive status epilepticus with carnitine palmitoyltransferase II variation. AEFCSE
40  2013 Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. ---
41  2012 Alterations of fatty acid beta-oxidation capability in the liver of ketotic cows. ACADL, ACC, ACSL, BHBA, CPT I, HMGCS, NEFA
42  2012 Argininosuccinate synthase conditions the response to acute and chronic ethanol-induced liver injury in mice. 3-NT, ALD, ASS, mRNAs, NO, NOS2, p-AMPKalpha, Sirt-1, WT
43  2012 Catechins and Caffeine Inhibit Fat Accumulation in Mice through the Improvement of Hepatic Lipid Metabolism. ACO, EGCG, FAS
44  2012 Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. ---
45  2012 Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. VLCAD
46  2011 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. ---
47  2011 Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy. IAE, PPAR, WT
48  2011 Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. IAE
49  2011 Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ---
50  2011 Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children. IAE
51  2010 Effect of PUFA on embryo cryoresistance, gene expression and AMPKalpha phosphorylation in IVF-derived bovine embryos. ACC, ACSL1, ADRP, beta-ME, BOEC, DGAT1, FADS2, FAS, mSOF, SCD1, SREBP1
52  2010 Fatty acid oxidation disorders: outcome and long-term prognosis. CoA
53  2010 Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers. MA, RyR1, VLCAD
54  2010 Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. ---
55  2009 Seasonal upregulation of fatty acid transporters in flight muscles of migratory white-throated sparrows (Zonotrichia albicollis). CS, H-FABP, HOAD
56  2008 Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C. TMS
57  2008 Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. ---
58  2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. ---
59  2008 Disorders of the carnitine cycle and detection by newborn screening. CPT I
60  2008 Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. ---
61  2007 Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency. ---
62  2007 Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. ---
63  2006 Crystal structure of rat carnitine palmitoyltransferase II (CPT-II). ---
64  2006 [Study of the inborn errors of mitochondrial fatty acid beta-oxidation deficiency]. LCHAD, MCAD, SCAD, SID
65  2005 A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy. LHON, mtDNA, RRF
66  2005 Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. ARF, PCR
67  2005 Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. CK
68  2005 Down-regulated expression of PPARalpha target genes, reduced fatty acid oxidation and altered fatty acid composition in the liver of mice transgenic for hTNFalpha. ACC2, FAS, PPARalpha
69  2005 Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. CK
70  2005 Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. IAE
71  2004 Acute renal failure due to carnitine palmitoyltransferase II deficiency. ARF
72  2004 Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. FAO
73  2004 Leptin and the control of respiratory gene expression in muscle. COX, CS, HOAD, LCAD, NRF-2, NRF1, PPARs
74  2003 A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. ---
75  2003 Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. ---
76  2003 Lipoprotein lipase activator NO-1886 (ibrolipim) accelerates the mRNA expression of fatty acid oxidation-related enzymes in rat liver. ACAA2, ECH, LCAD, LPL, RQ, UCP2
77  2003 Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. ---
78  2002 Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. ---
79  2002 Identification by mutagenesis of a conserved glutamate (Glu487) residue important for catalytic activity in rat liver carnitine palmitoyltransferase II. CPT I
80  2002 Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. ---
81  2002 Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. ---
82  2002 Tandem mass spectrometric assay for the determination of carnitine palmitoyltransferase II activity in muscle tissue. MS/MS
83  2001 Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. CACT
84  2001 Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. LCHAD, MCAD, SCAD
85  2001 Rat liver mitochondrial contact sites and carnitine palmitoyltransferase-I. CACT, CPT I, LCAS
86  2000 A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. ---
87  2000 Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. ---
88  2000 Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. ---
89  2000 Selective modulation of carnitine long-chain acyltransferase activities. Kinetics, inhibitors, and active sites of COT and CPT-II. COT
90  1999 Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. ---
91  1999 Hepatic gene expression and cytokine responses to sterile inflammation: comparison with cecal ligation and puncture sepsis in the rat. ACA, CLP, G6Pase, IL-beta, OTC, PEPCK, TNF-alpha
92  1999 Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. ---
93  1999 Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy. MRS
94  1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency. ASO
95  1998 A novel mutation identified in carnitine palmitoyltransferase II deficiency. R124Stop
96  1998 Active sites residues of beef liver carnitine octanoyltransferase (COT) and carnitine palmitoyltransferase (CPT-II). COT, DEPC, FDNB
97  1998 Carnitine palmitoyltransferase II activity is decreased in liver mitochondria of cachectic rats bearing the Walker 256 carcinosarcoma: effect of indomethacin treatment. CPT I
98  1998 Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria. ---
99  1998 Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. ---
100  1998 Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. ---