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2. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. Dusheiko G; Kew MC; Joffe BI; Lewin JR; Mantagos S; Tanaka K N Engl J Med; 1979 Dec; 301(26):1405-9. PubMed ID: 514320 [TBL] [Abstract][Full Text] [Related]
3. Carnitine deficiency in inherited organic acid disorders and Reye syndrome. Sugiyama N; Kidouchi K; Kobayashi M; Wada Y Acta Paediatr Jpn; 1990 Aug; 32(4):410-6. PubMed ID: 2288224 [TBL] [Abstract][Full Text] [Related]
4. Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase. Di Donato S; Frerman FE; Rimoldi M; Rinaldo P; Taroni F; Wiesmann UN Neurology; 1986 Jul; 36(7):957-63. PubMed ID: 3714057 [TBL] [Abstract][Full Text] [Related]
5. Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. Fontaine M; Briand G; Largillière C; Degand P; Divry P; Vianey-Saban C; Mousson B; Vamecq J Clin Chim Acta; 1998 May; 273(2):161-70. PubMed ID: 9657346 [TBL] [Abstract][Full Text] [Related]
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9. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Saudubray JM; Coudé FX; Demaugre F; Johnson C; Gibson KM; Nyhan WL Pediatr Res; 1982 Oct; 16(10):877-81. PubMed ID: 7145511 [TBL] [Abstract][Full Text] [Related]
10. Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. Röschinger W; Muntau AC; Duran M; Dorland L; IJlst L; Wanders RJ; Roscher AA Clin Chim Acta; 2000 Aug; 298(1-2):55-68. PubMed ID: 10876004 [TBL] [Abstract][Full Text] [Related]
11. Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders. Schmidt-Sommerfeld E; Bobrowski PJ; Penn D; Rhead WJ; Wanders RJ; Bennett MJ Pediatr Res; 1998 Aug; 44(2):210-4. PubMed ID: 9702916 [TBL] [Abstract][Full Text] [Related]
12. Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders. Pourfarzam M; Schaefer J; Turnbull DM; Bartlett K Clin Chem; 1994 Dec; 40(12):2267-75. PubMed ID: 7988014 [TBL] [Abstract][Full Text] [Related]
13. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Stanley CA Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304 [TBL] [Abstract][Full Text] [Related]
14. Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. de Visser M; Scholte HR; Schutgens RB; Bolhuis PA; Luyt-Houwen IE; Vaandrager-Verduin MH; Veder HA; Oey PL Neurology; 1986 Mar; 36(3):367-72. PubMed ID: 3951704 [TBL] [Abstract][Full Text] [Related]
15. Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts. Rhead W; Mantagos S; Tanaka K Pediatr Res; 1980 Dec; 14(12):1339-42. PubMed ID: 7208150 [TBL] [Abstract][Full Text] [Related]
16. The importance of recognizing secondary carnitine deficiency in organic acidaemias: case report in glutaric acidaemia type II. Mandel H; Africk D; Blitzer M; Shapira E J Inherit Metab Dis; 1988; 11(4):397-402. PubMed ID: 2468819 [TBL] [Abstract][Full Text] [Related]
17. L-carnitine treatment in glutaric aciduria type I. Seccombe DW; James L; Booth F Neurology; 1986 Feb; 36(2):264-7. PubMed ID: 3945396 [TBL] [Abstract][Full Text] [Related]
18. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Bonnet D; Martin D; Pascale De Lonlay ; Villain E; Jouvet P; Rabier D; Brivet M; Saudubray JM Circulation; 1999 Nov; 100(22):2248-53. PubMed ID: 10577999 [TBL] [Abstract][Full Text] [Related]
19. Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally. Bennett MJ; Curnock DA; Engel PC; Shaw L; Gray RG; Hull D; Patrick AD; Pollitt RJ J Inherit Metab Dis; 1984; 7(2):57-61. PubMed ID: 6207379 [TBL] [Abstract][Full Text] [Related]
20. Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. Fontaine M; Briand G; Vallée L; Ricart G; Degand P; Divry P; Vianey-Saban C; Vamecq J Clin Chim Acta; 1996 Aug; 252(2):109-22. PubMed ID: 8853559 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]