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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Abrahamsson ; K ; 3107 ; Effect of short-term treatment with pivalic acid containing antibiotics on serum carnitine concentration--a risk irrespective of age. ; Biochem Mol Med ; 1995 ; 55(1) ; 77-79
Anderson ; LA ; 5678 ; Zinc acetate treatment in Wilson's disease. ; Ann Pharmacother ; 1998 ; 32(1) ; 78-87
Angelini ; C ; 2704 ; Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation. ; Crit Rev Clin Lab Sci ; 1992 ; 29(3-4) ; 217-42
Antozzi ; C ; 636* ; Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency. ; Neurology ; 1994 ; 44(11) ; 2153-8
Antozzi ; C ; 3137* ; Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency. ; J Neurol Sci ; 1995 ; 129(2) ; 152-161
Antozzi ; C ; 5682 ; Emerging treatments in myopathies. ; Eur Neurol ; 1997 ; 38(3) ; 222-9
Aoyama ; T ; 3138* ; Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. ; Am J Hum Genet ; 1995 ; 57(2) ; 273-283
Aoyama ; T ; 3139 ; Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. ; J Clinical Investigation ; 1995 ; 95(6) ; 2465-2473
Arenas ; J ; 3143* ; Abnormal carnitine distribution in the muscles of patients with idiopathic inflammatory myopathy. ; Arthritis Rheum ; 1996 ; 39(11) ; 1869-1874
Arens ; R ; 2360* ; Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. ; Journal of Pediatrics ; 1993 ; 122(5 Pt 1) ; 715-8
Armstrong ; RW ; 5690 ; Intrathecally administered baclofen for treatment of children with spasticity of cerebral origin. ; J Neurosurg ; 1997 ; 87(3) ; 409-14
Athappilly ; FK ; 3152* ; Structure of the biotinyl domain of acetyl-coenzyme A carboxylase determined by MAD phasing. ; Structure ; 1995 ; 3(12) ; 1407-1419
Aufricht ; C ; 5693 ; Clinical impact of peritoneal equilibration testing in treatment of congenital lactic acidosis by acute peritoneal dialysis. ; Am J Perinatol ; 1997 ; 14(3) ; 145-6
Bakker ; HD ; 1033 ; Neonatal cardiomyopathy and lactic acidosis responsive to thiamine. ; Journal of Inherited Metabolic Disease ; 1991 ; 14(1) ; 75-9
Bakker ; HD ; 913* ; Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis. ; Journal of Inherited Metabolic Disease ; 1994 ; 17(2) ; 196-204
Bakker ; SJ ; 5699 ; Protection against cardiovascular collapse in an alcoholic patient with thiamine deficiency by concomitant alcoholic ketoacidosis. ; J Intern Med ; 1997 ; 242(2) ; 179-83
Bakker ; HD ; 689* ; Vitamin E in a mitochondrial myopathy with proliferating mitochondria [letter]. ; Lancet ; 1993 ; 342(8864) ; 175-6
Bakker ; HD ; 1803* ; Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E. ; Journal of Inherited Metabolic Disease ; 1993 ; 16(3) ; 548-52
Bannwart ; C ; 2732 ; Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. ; J Inherit Metab Dis ; 1992 ; 15(6) ; 863-8
Barak ; Y ; 597* ; MELAS syndrome: peripheral neuropathy Bendahanand cytochrome C-oxidase deficiency: a case report and review of the literature. [Review] ; Israel Journal of Medical Sciences ; 1995 ; 31(4) ; 224-9
Barbiroli ; B ; 5702 ; Coenzyme Q10 improves mitochondrial respiration in patients with mitochondrial cytopathies. An in vivo study on brain and skeletal muscle by phosphorous magnetic resonance spectroscopy. ; Cell Mol Biol (Noisy-le-grand) ; 1997 ; 43(5) ; 741-9
Barrett ; TG ; 5704 ; Muscle biochemistry in thiamin-responsive anaemia. ; J Inherit Metab Dis ; 1997 ; 20(3) ; 404-6
Barton ; IK ; 1029 ; Successful treatment of severe lactic acidosis by haemofiltration using a bicarbonate-based replacement fluid. ; Nephrology, Dialysis, Transplantation ; 1991 ; 6(5) ; 368-70
Bendahan ; D. ; 16* ; 31P NMR spectroscopy and ergonometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies ; Neurology ; 1992 ; 42 ; 1203-8
Bennett ; MJ ; 3193* ; Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter ; Clin Cardiol ; 1996 ; 19(3) ; 243-246
Bennett ; MJ ; 3194* ; Erythrocyte membrane reacylation in juvenile neuronal ceroid- lipofuscinosis: measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: acyl-CoA acyltransferase activities. ; Am J Med Genet ; 1995 ; 57(2) ; 304-306
Berio ; A ; 1140* ; Improvement of Kearns-Sayre syndrome with controlled carbohydrate intake and coenzyme Q10 therapy [letter; comment]. ; Ophthalmologica ; 1994 ; 208(6) ; 342-3
Bernsen ; PL ; 710* ; Treatment of complex I deficiency with riboflavin. ; Journal of the Neurological Sciences ; 1993 ; 118(2) ; 181-7
Bettendorff ; L ; 3204 ; Thiamine deficiency--induced partial necrosis and mitochondrial uncoupling in neuroblastoma cells are rapidly reversed by addition of thiamine. ; J Neurochem ; 1995 ; 65(5) ; 2178-2184
Bettendorff ; L ; 5716 ; Reversibility of thiamine deficiency-induced partial necrosis and mitochondrial uncoupling by addition of thiamine to neuroblastoma cell suspensions. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 121-4
Beyer ; RE ; 392 ; An analysis of the role of coenzyme Q in free radical generation and as an antioxidant. ; Biochem Cell Biol ; 1992 ; 70(6) ; 390-403
Beyer ; RE ; 2713 ; The participation of coenzyme Q in free radical production and antioxidation. ; Free Radic Biol Med ; 1990 ; 8(6) ; 545-65
Bhala ; A ; 3206 ; Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. ; J Pediatr ; 1995 ; 126(6) ; 910-915
Bhuiyan ; AK ; 2702 ; The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation. ; Clin Chim Acta ; 1992 ; 207(3) ; 185-204
Blackshear ; P.J. ; 547 ; Treatment of severe lactic acidosis with dichloroacetate ; Diabetes Care ; 1982 ; 5 ; 391
Bohles ; H ; 3219* ; The effect of carnitine supplementation in valproate-induced hyperammonaemia. ; Acta Paediatr ; 1996 ; 85(4) ; 446-449
Bonnefont ; JP ; 3223* ; Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. ; Am J Hum Genet ; 1996 ; 58(5) ; 971-978
Bonner ; CM ; 3225 ; Effects of parenteral L-carnitine supplementation on fat metabolism and nutrition in premature neonates. ; J Pediatr ; 1995 ; 126(2) ; 287-292
Bove ; KE ; 5736 ; The metabolic crisis: a diagnostic challenge [editoria; comment] ; J Pediatr ; 1997 ; 131(2) ; 181-2
Bremer ; J ; 2727 ; The role of carnitine in intracellular metabolism. ; J Clin Chem Clin Biochem ; 1990 ; 28(5) ; 297-301
Breningstall ; Galen ; 5670* ; Carnitine Deficiency Syndromes ; Pediatric Neurology ; 1990 ; 6(2) ; 75-81
Bresolin ; N ; 2748 ; Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. ; J Neurol Sci ; 1990 ; 100(1-2) ; 70-8
Britton ; CH ; 3246* ; Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. ; Proc Natl Acad Sci USA ; 1995 ; 92(6) ; 1984-1988
Brivet ; M ; 3248 ; Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 181-184
Brodie ; M.J. ; 420* ; Established anticonvulsants and treatments of refractory epilepsy ; Lancet ; 1990 ; 336 ; 350-4
Buchman ; AL ; 5745 ; Relation between choline and carnitine homeostasis [letter; comment] ; Am J Clin Nutr ; 1997 ; 65(2) ; 574-5
Campos ; Y ; 560* ; Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy. ; Annals of the Rheumatic Diseases ; 1995 ; 54(6) ; 491-3
Campos ; Y ; 623* ; Muscle carnitine deficiency associated with zidovudine-induced mitochondrial myopathy [letter; comment]. ; Annals of Neurology ; 1994 ; 36(4) ; 680-1
Campos ; Y ; 744* ; Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy. ; Muscle & Nerve ; 1993 ; 16(7) ; 778-81
Campos ; Y ; 769* ; Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. ; Muscle & Nerve ; 1993 ; 16(2) ; 150-3
Carrasco Marina ; LL ; 3267 ; Recurrent myoglobinuria in a girl due to carnitine palmitoyltransferase deficiency ; An Esp Pediatr ; 1996 ; 44(1) ; 67-69
Carta ; A ; 3269 ; Acetyl-L-carnitine and Alzheimer's disease: pharmacological considerations beyond the cholinergic sphere. ; Ann N Y Acad Sci ; 1993 ; 695 ; 324-326
Carter ; AL ; 3270 ; Biosynthesis and metabolism of carnitine. ; J Child Neurol ; 1995 ; 10 ; S3-S7
Ceccarelli ; M ; 3280 ; Plasma L-carnitine levels in children with celiac disease ; Minerva Pediatr ; 1992 ; 44(9) ; 401-405
Chace ; DH ; 5763 ; Rapid diagnosis of MCAD deficiency: quantitatively analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. ; Clin Chem ; 1997 ; 43(11) ; 2106-13
Chalmers ; RA ; 5765 ; Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death [see comments] ; J Pediatr ; 1997 ; 131(2) ; 220-5
Chandrahas ; G ; 5647* ; Comparison of L-Carnitine phamacokinetics with and without baseline correction following administration of single 20-mg/kg intravenious dose ; J Pharm Sci ; 1995 ; 84(5) ; 634-9
Chen ; YF ; 2875* ; Effectiveness of coenzyme Q10 on myocardial preservation during hypothermic cardioplegic arrest. ; J Thorac Cardiovasc Surg ; 1994 ; 107(1) ; 242-7
Chen ; RS ; 5770 ; Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. ; Eur Neurol ; 1997 ; 37(4) ; 212-8
Christodoulou ; J ; 5780 ; First prenatal diagnosis of the carnitine transporter defect. ; Am J Med Genet ; 1996 ; 66(1) ; 21-4
Collins ; JE ; 928 ; Biotinidase deficiency: early neurological presentation [see comments]. ; Developmental Medicine & Child Neurology ; 1994 ; 36(3) ; 268-70
Connolly ; V ; 3312* ; Metformin treatment in NIDDM patients with mild renal impairment. ; Postgrad Med J ; 1996 ; 72(848) ; 352-354
Constantinescu ; A ; 2884 ; Interactions between ubiquinones and vitamins in membranes and cells. ; Mol Aspects Med ; 1994 ; 15 Suppl ; s57-65
Constantinescu ; A ; 1421* ; Vitamin E recycling in human erythrocyte membranes. ; Journal of Biological Chemistry ; 1993 ; 268(15) ; 10906-13
Cooper ; JM ; 579 ; Treatment of experimental NADH ubiquinone reductase deficiency with menadione. ; Brain ; 1992 ; 115 ( Pt 4) ; 991-1000
Corbucci ; GG ; 2718 ; Influence of acetyl-carnitine on some mitochondrial enzymic activities in the human cerebral tissue in conditions of acute hypoxia. ; Int J Tissue React ; 1992 ; 14(4) ; 183-94
Corydon ; MJ ; 3317 ; Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. ; Pediatr Res ; 1996 ; 39(6) ; 1059-1066
Costa ; CG ; 5796 ; Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders. ; Clin Chem ; 1998 ; 44(3) ; 463-71
Costa ; CG ; 5797 ; Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. ; J Lipid Res ; 1997 ; 38(1) ; 173-82
Coulter ; DL ; 3319 ; Carnitine deficiency in epilepsy: Risk factors and treatment. ; J Child Neurol ; 1995 ; 10 ; S32-S39
Craigen ; WJ ; 3321 ; Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. ; Pediatric Neurology ; 1996 ; 14(1) ; 69-71
Dabbagh ; O ; 486* ; The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. ; Brain & Development ; 1994 ; 16 Suppl ; 72-80
Dalakas ; MC ; 624* ; Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage [see comments]. ; Annals of Neurology ; 1994 ; 35(4) ; 482-7
Dario Labonia ; W ; 3334* ; L-carnitine effects on anemia in hemodialyzed patients treated with erythropoietin. ; Am J Kidney Dis ; 1995 ; 26(5) ; 757-764
Dawson ; DB ; 898* ; Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. ; Journal of Pediatrics ; 1995 ; 126(1) ; 69-71
Dawson ; G ; 5806 ; Mitochondrial abnormalities in CLN2 and CLN3 forms of Batten disease. ; Mol Chem Neuropathol ; 1996 ; 29(2-3) ; 227-35
De Stafano ; N ; 445 ; Improvement of cerebral metabolism in patents with mitocondrial disorders by dichloroacetate (DCA) treatment ; Neurology ; 1994 ; 44 ; A404
De Stefano ; N ; 1602* ; Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. ; Neurology ; 1995 ; 45(6) ; 1193-8
De Vivo ; Darryl ; 5671* ; Primary and Secondary Disorders of Carnitine Metabolism ; International Pediatrics ; 1990 ; 5(2) ; 134-41
Demmelmair ; H ; 5815 ; New insights into lipid and fatty acid metabolism via stable isotopes. ; Eur J Pediatr ; 1997 ; 156 Suppl 1 ; S70-4
Drachman ; DA ; 5830 ; Treatment of Alzheimer's disease -- searching for a breakthrough, settling for less [editorial; comment] ; N Engl J Med ; 1997 ; 336(17) ; 1245-7
Drake Jr ; ME ; 5831 ; Serum carnitine levels in ambulatory epilepsy outpatients. ; Seizure ; 1996 ; 5(4) ; 251-3
Dreval ; D ; 1768* ; Carnitine palmitoyl transferase deficiency in pregnancy--a case report. ; American Journal of Obstetrics & Gynecology ; 1994 ; 170(5 Pt 1) ; 1390-2
Duran ; M ; 2452* ; Cerebrospinal fluid organic acids in biotinidase deficiency. ; Journal of Inherited Metabolic Disease ; 1993 ; 16(3) ; 513-6
England ; JD ; 3388* ; Mitochondrial myopathy developing on treatment with the HMG CoA reductase inhibitors--simvastatin and pravastatin ; Aust N Z J Med ; 1995 ; 25(4) ; 374-375
Ernster ; L ; 2750 ; The mode of action of lipid-soluble antioxidants in biological membranes. Relationship between the effects of ubiquinol and vitamin E as inhibitors of lipid peroxidation in submitochondrial particles. ; J Nutr Sci Vitaminol (Tokyo) ; 1992 ; Spec No ; 548-51
Faigel ; HC ; 1515 ; Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review. [Review] ; J American College Health ; 1995 ; 44(2) ; 51-4
Fearon ; KC ; 5627 ; Nutritional pharmacology in the treatment of neoplastic disease. ; Baillieres Clin Gastroenterol ; 1988 ; 2(4) ; 941-949
Flath ; B ; 5854 ; Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ; J Chromatogr B Biomed Sci Appl ; 1997 ; 694(1) ; 227-32
Fontaine ; M ; 5858 ; Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. ; Clin Chim Acta ; 1996 ; 252(2) ; 109-22
Fontaine ; M ; 5857 ; Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency. ; Clin Chim Acta ; 1996 ; 255(1) ; 67-83
Forchielli ; ML ; 5859 ; Immune deficiencies in chronic intestinal pseudo-obstruction. ; Acta Paediatr ; 1997 ; 86(10) ; 1077-81
Frei ; B. ; 542 ; Ubiquinol-10 is an effective lipid-soluable antioxidant at physiological concentrations ; Proc Natl Acad Sci USA ; 1990 ; 87 ; 4879
Fujii ; T ; 447* ; Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome ; J Pediatr ; 1990 ; 116(1) ; 84-7
Fukazawa ; T ; 5868 ; Serum carnitine and disabling fatigue in multiple sclerosis. ; Psychiatry Clin Neurosci ; 1996 ; 50(6) ; 323-5
Gasch ; AT ; 5629 ; Use of the traditional ketogenic diet for treatment of intractable epilepsy ; J Am Diet Assoc ; 1990 ; 90(10) ; 1433-1434
Gibson ; KM ; 5879 ; 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. ; J Pediatr ; 1998 ; 132(3 Pt 1) ; 519-23
Gold ; R ; 3454* ; Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: results of a 6-month therapy study with coenzyme Q. ; Eur Neurol ; 1996 ; 36(4) ; 191-196
Goni ; FM ; 2844* ; Palmitoylcarnitine, a surface-active metabolite. ; FEBS Lett ; 1996 ; 390(1) ; 1-5
Goo ; AK ; 3458* ; Metformin: a new treatment option for non-insulin-dependent diabetes mellitus. ; J Fam Pract ; 1996 ; 42(6) ; 612-618
Guneral ; F ; 3480 ; Serum and urine total, free and acylcarnitine levels related to age: assessment of renal handling of carnitine. ; Turk J Pediatr ; 1995 ; 37(3) ; 217-222
Guthrie ; R ; 5898 ; Treatment of non-insulin-dependent diabetes mellitus with metformin. ; J Am Board Fam Pract ; 1997 ; 10(3) ; 213-21
Hagenfeldt ; L ; 1158* ; Creatine treatment in MELAS [letter]. ; Muscle & Nerve ; 1994 ; 17(10) ; 1236-7
Handig ; I ; 3497* ; Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. ; Human Genetics ; 1996 ; 97(3) ; 291-293
Heaney ; D ; 5912 ; Bicarbonate haemodialysis as a treatment of metformin overdose. ; Nephrol Dial Transplant ; 1997 ; 12(5) ; 1046-7
Heinonen ; OJ ; 3511* ; Carnitine and physical exercise. ; Sports Med ; 1996 ; 22(2) ; 109-132
Hemalatha ; SG ; 2416* ; Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. ; Human Molecular Genetics ; 1995 ; 4(2) ; 315-8
Heroux ; M ; 3515* ; Alterations of thiamine phosphorylation and of thiamine-dependent enzymes in Alzheimer's disease. ; Metab Brain Dis ; 1996 ; 11(1) ; 81-88
Higgins ; JJ ; 5918 ; Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency. ; Clin Biochem ; 1997 ; 30(1) ; 79-81
Hiraoka ; A ; 5920 ; Reduction in blood free carnitine levels in association with changes in sodium valproate (VPA) disposition in epileptic patients treated with VPA and other anti-epileptic drugs. ; Biol Pharm Bull ; 1997 ; 20(1) ; 91-3
Hirose ; S ; 5921 ; Carnitine depletion during total parenteral nutrition despite oral L- carnitine supplementation. ; Acta Paediatr Jpn ; 1997 ; 39(2) ; 194-200
Hoffmann ; GF ; 2736 ; Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. ; J Inherit Metab Dis ; 1990 ; 13(3) ; 337-40
Honavar ; M ; 453* ; Neuropathology of biotinidase deficiency. ; Acta Neuropathol (Berl) ; 1992 ; 84(4) ; 461-4
Hsu ; CC ; 1041* ; CPEO and carnitine deficiency overlapping in MELAS syndrome. ; Acta Neurologica Scandinavica ; 1995 ; 92(3) ; 252-5
Huang ; MY ; 3547 ; Mitochondrial NADH-coenzyme Q reductase deficiency in Leigh's disease. ; J Formos Med Assoc ; 1996 ; 95(4) ; 325-328
Huertas ; R ; 2686 ; Respiratory chain enzymes in muscle of endurance athletes: effect of L-carnitine. ; Biochem Biophys Res Commun ; 1992 ; 188(1) ; 102-7
Huizing ; M ; 5931 ; Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. ; Am J Hum Genet ; 1997 ; 61(6) ; 1239-45
Hulsmann ; WC ; 2756 ; Carnitine requirement of vascular endothelial and smooth muscle cells in imminent ischemia. ; Mol Cell Biochem ; 1992 ; 116(1-2) ; 125-9
Hunt ; PA ; 3550 ; Carnitine deficiency ; Pediatrics ; 1995 ; 96(6) ; 1175
Iafolla ; AK ; 3553 ; Familial infantile apnea and immature beta oxidation. ; Pediatr Pulmonol ; 1995 ; 20(3) ; 167-171
Indiveri ; C ; 5938 ; The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. ; Biochem J ; 1997 ; 321 ( Pt 3) ; 713-9
Jackson ; JM ; 5948 ; L-carnitine and acetyl-L-carnitine status during hemodialysis with acetate in humans: a kinetic analysis [see comments] ; Am J Clin Nutr ; 1996 ; 64(6) ; 922-7
Jacob ; RA ; 3573 ; In vivo methylation capacity is not impaired in healthy men during short-term dietary folate and methyl group restriction. ; J Nutr ; 1995 ; 125(6) ; 1495-1502
Jakobs ; BS ; 3580 ; Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 185-187
Jakobs ; BS ; 2801* ; Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria. ; Biochem Biophys Res Commun ; 1995 ; 213(3) ; 1035-41
Jakobs ; C ; 5949 ; In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique. ; Eur J Pediatr ; 1997 ; 156 Suppl 1 ; S78-82
Johnson ; AW ; 5955 ; The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots. ; Biochem Soc Trans ; 1996 ; 24(3) ; 932-8
Johnston ; CS ; 5956 ; Vitamin C depletion is associated with alterations in blood histamine and plasma free carnitine in adults. ; J Am Coll Nutr ; 1996 ; 15(6) ; 586-91
Kalaria ; RN ; 3608 ; Carnitine acetyltransferase activity in the human brain and its microvessels is decreased in Alzheimer's disease. ; Ann. Neurol. ; 1992 ; 32(4) ; 583-586
Kapadia ; CR ; 3614 ; Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport. ; Gastroenterologist ; 1995 ; 3(4) ; 329-344
Kaufmann ; P ; 5969 ; Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 237-9
Kerr ; DS ; 5654 ; Treatment of congenital lactic acidosis: a review ; Int Pediatrics ; 1995 ; 10(1) ; 75-81
Kilo ; C ; 5977 ; Metformin: a safe and effective treatment in the management of NIDDM. ; Mo Med ; 1997 ; 94(3) ; 114-23
Kim ; Y ; 5978 ; Therapeutic effect of co-enzyme Q10 on idiopathic dilated cardiomyopathy: assessment by iodine-123 labelled 15-(p-iodophenyl)- 3(R,S)-methylpentadecanoic acid myocardial single-photon emission tomography. ; Eur J Nucl Med ; 1997 ; 24(6) ; 629-34
Kinoshita ; H ; 5984 ; Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency. ; J Child Neurol ; 1997 ; 12(2) ; 141-4
Kirkeby ; S ; 2847 ; Biotin carboxylases in mitochondria and the cytosol from skeletal and cardiac muscle as detected by avidin binding. ; Histochemistry ; 1993 ; 100(6) ; 415-21
Kler ; RS ; 2723 ; Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. ; J Biol Chem ; 1991 ; 266(34) ; 22932-8
Ko ; GT ; 3644* ; Phenformin-induced lactic acidosis: an almost forgotten complication of treatment with biguanides. ; Br J Hosp Med ; 1995 ; 54(9) ; 469-470
Koga ; Y. ; 89* ; Findings on muscle in complex I (NADH coenzyme Q reductase) deficiency ; Ann Neurol ; 1988 ; 24 ; 749-56
Koller ; H ; 5995 ; Postpartum manifestation of a necrotising lipid storage myopathy associated with muscle carnitine deficiency [letter] ; J Neurol Neurosurg Psychiatry ; 1998 ; 64(3) ; 407-8
Krahenbuhl ; S ; 3656 ; Carnitine: vitamin or doping? ; Ther Umsch ; 1995 ; 52(10) ; 687-692
Kubatko-Zielinska ; A ; 3666 ; Congenital syndromes of oculomotor disturbances--diagnosis and results of surgical treatment ; Klin Oczna ; 1995 ; 97(5) ; 142-146
Kuratsune ; H ; 2830 ; Acylcarnitine deficiency in chronic fatigue syndrome. ; Clin Infect Dis ; 1994 ; 18 Suppl 1 ; S62-7
Kurlemann ; G ; 3673 ; Therapy of complex I deficiency: peripheral neuropathy during dichloroacetate therapy. ; Eur J Pediatr ; 1995 ; 154(11) ; 928-932
Kuroda ; Y ; 389* ; Treatment of chronic congenital lactic ascidosis by oral administration of dichloracetate ; J Inherit Metab Dis ; 1986 ; 9 ; 244-52
Kuroda ; Y ; 6007 ; Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. ; J Pediatr ; 1997 ; 131(3) ; 450-2
Land ; JM ; 1611* ; Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy. ; Neuromuscular Disorders ; 1995 ; 5(2) ; 129-37
Landi ; L. ; 537 ; Antioxidative effect of ubiquninones in mitochondrial membranes ; Biochem J ; 1984 ; 222 ; 463-
Lange ; R ; 985 ; Lactic acidosis from thiamine deficiency during parenteral nutrition in a two-year-old boy. ; European Journal of Pediatric Surgery ; 1992 ; 2(4) ; 241-4
Largilliere ; C ; 1516* ; Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation. ; Archives of Disease in Childhood Fetal & Neonatal Edition ; 1995 ; 73(2) ; F103-5
Lavoie ; J ; 3682 ; Reduced activities of thiamine-dependent enzymes in brains of alcoholics in the absence of Wernicke's encephalopathy. ; Alcohol Clin Exp Res ; 1995 ; 19(4) ; 1073-1077
Lehnert ; W ; 6016 ; Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. ; Eur J Pediatr ; 1996 ; 155(7) ; 568-72
Lenaz ; G. ; 539 ; A survey of the function and specificity of ubiquinone in the mitochondrial respiratory chain ; in Coenzyme Q, Ed. Lenaz, G. ; 1985 ; ; 165
Lenaz ; G. ; 538 ; Physical properties of ubiquninones in model systems and membranes ; in Coenzyme Q, Ed. Lenaz, G. ; 1985 ; ; 83
Linn ; B.O. ; 543 ; Isolation and distribution of coenzyme Q10 in animal tissues ; J Am Chem Soc ; 1959 ; 81 ; 4007-
Lodi ; R ; 2883 ; The use of phosphorus magnetic resonance spectroscopy to study in vivo the effect of coenzyme Q10 treatment in retinitis pigmentosa. ; Mol Aspects Med ; 1994 ; 15 Suppl ; s221-30
LoVecchio ; F ; 6027 ; Approach to generalized weakness and peripheral neuromuscular disease. ; Emerg Med Clin North Am ; 1997 ; 15(3) ; 605-23
MacDonald ; MJ ; 2835* ; Normalization by insulin treatment of low mitochondrial glycerol phosphate dehydrogenase and pyruvate carboxylase in pancreatic islets of the GK rat. ; Diabetes ; 1996 ; 45(7) ; 886-90
Maestri ; NE ; 3735* ; Long-term treatment of girls with ornithine transcarbamylase deficiency. ; N Engl J Med ; 1996 ; 335(12) ; 855-859
Majamaa ; K ; 3737* ; Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome. ; Life Sci ; 1996 ; 58(8) ; 691-699
Martinez ; G ; 6051 ; Plasma free fatty acids in mitochondrial fatty acid oxidation defects. ; Clin Chim Acta ; 1997 ; 267(2) ; 143-54
Matsubara ; S ; 611* ; Mitochondrial changes in acute myopathy after treatment of respiratory failure with mechanical ventilation (acute relaxant-steroid myopathy). [Review] ; Acta Neuropathologica ; 1994 ; 88(5) ; 475-8
Matsumoto ; J ; 6057 ; Successful treatment by direct hemoperfusion of coma possibly resulting from mitochondrial dysfunction in acute valproate intoxication. ; Epilepsia ; 1997 ; 38(8) ; 950-3
Matsuoka ; T ; 2762 ; Muscle coenzyme Q10 in mitochondrial encephalomyopathies. ; Neuromuscul Disord ; 1991 ; 1(6) ; 443-7
Matthews ; P.M. ; 273* ; Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease ; Neurology ; 1993 ; 43(5) ; 884-90
Matthews ; PM ; 1933* ; Coenzyme Q [letter; comment]. ; Neurology ; 1993 ; 43(3 Pt 1) ; 628-9
Maurer ; I ; 6061 ; Carnitine palmitoyltransferase in patients with cardiac ischemia due to atherosclerotic coronary artery disease and in patients with idiopathic dilated cardiomyopathy. ; Cardiology ; 1997 ; 88(3) ; 258-63
Maurer ; I ; 2675 ; Coenzyme Q10 and respiratory chain enzyme activities in hypertrophied human left ventricles with aortic valve stenosis. ; Am J Cardiol ; 1990 ; 66(4) ; 504-5
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