| P2093 | author name string | Bonnefont JP | |
| | Boutron A | |
| | Brivet M | |
| | Costa C | |
| | Demaugre F | |
| | Rabier D | |
| | Saudubray JM | |
| | Slama A | |
| | Thuillier L | |
| P2860 | cites work | cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase | Q24314407 |
| | Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene | Q24317500 |
| | Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat | Q24529850 |
| | Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q | Q24539033 |
| | Molecular characterization of inherited carnitine palmitoyltransferase II deficiency | Q24564061 |
| | Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression | Q24676291 |
| | Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient | Q28115954 |
| | Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations | Q28116003 |
| | Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32 | Q28236766 |
| | Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I | Q28243729 |
| | Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset | Q71518407 |
| | The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis | Q71646338 |
| | A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency | Q71755045 |
| | Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes | Q72325064 |
| | Carnitine-acylcarnitine translocase deficiency--a mild phenotype | Q73764650 |
| | Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization | Q74416908 |
| | A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype | Q74449911 |
| | Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency | Q77929947 |
| | Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria | Q28245199 |
| | Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients | Q28261894 |
| | Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes | Q28271733 |
| | Carnitine | Q28289103 |
| | Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system | Q28512019 |
| | The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins | Q28573189 |
| | Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II | Q28575952 |
| | The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis | Q29618429 |
| | Recognition and management of fatty acid oxidation defects: a series of 107 patients. | Q33688367 |
| | Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts | Q33894446 |
| | Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. The minor component is identical to the liver enzyme | Q36734606 |
| | Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function | Q36777865 |
| | Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake | Q36885831 |
| | Molecular basis of hepatic carnitine palmitoyltransferase I deficiency | Q37384234 |
| | Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy | Q37986685 |
| | Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome | Q39569691 |
| | Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. | Q40473100 |
| | Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies | Q40512099 |
| | Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency | Q40604838 |
| | Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene | Q40993013 |
| | Complementation analysis of carnitine palmitoyltransferase I and II defects | Q41162540 |
| | Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy | Q41356691 |
| | Evidence for intermediate channeling in mitochondrial beta-oxidation | Q41380859 |
| | Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation | Q41626822 |
| | Some differences in the properties of carnitine palmitoyltransferase activities of the mitochondrial outer and inner membranes | Q42164520 |
| | Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. | Q42541206 |
| | Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1? | Q44261854 |
| | Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane | Q44677481 |
| | Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient | Q47757846 |
| | Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B). | Q48053796 |
| | Sudden neonatal death in carnitine transporter deficiency. | Q51573947 |
| | Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. | Q51573954 |
| | Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. | Q51655046 |
| | Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities | Q56241352 |
| | Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency | Q60695126 |
| | First prenatal diagnosis of the carnitine transporter defect | Q63384424 |
| | Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency | Q63384430 |
| | Carnitine palmitoyltransferase I. The site of inhibition of hepatic fatty acid oxidation by malonyl-CoA | Q67342158 |
| | The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders | Q67937429 |
| | Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts | Q67953219 |
| | Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts | Q67959877 |
| | Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II | Q68073212 |
| | Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency | Q71194968 |
| | Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents | Q71345316 |
| | Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase | Q71512421 |
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | fatty acid | Q61476 |
| P304 | page(s) | 428-441 | |
| P577 | publication date | 1999-06-01 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Defects in activation and transport of fatty acids | |
| P478 | volume | 22 | |