These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
149 related articles for article (PubMed ID: 8482285)
1. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Vianey-Saban C; Mousson B; Bertrand C; Stamm D; Dumoulin R; Zabot MT; Divry P; Floret D; Mathieu M Eur J Pediatr; 1993 Apr; 152(4):334-8. PubMed ID: 8482285 [TBL] [Abstract][Full Text] [Related]
2. [Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation]. Angelini C Acta Neurol (Napoli); 1989 Oct; 11(5):330-4. PubMed ID: 2603779 [TBL] [Abstract][Full Text] [Related]
3. Defects in activation and transport of fatty acids. Brivet M; Boutron A; Slama A; Costa C; Thuillier L; Demaugre F; Rabier D; Saudubray JM; Bonnefont JP J Inherit Metab Dis; 1999 Jun; 22(4):428-41. PubMed ID: 10407779 [TBL] [Abstract][Full Text] [Related]
4. [Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]. Bonnefont JP; Ogier H; Mitchell G; Demaugre F; Pelet A; Saudubray JM; Frezal J Arch Fr Pediatr; 1985; 42 Suppl 1():613-7. PubMed ID: 4083994 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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. Jakobs C; Kneer J; Martin D; Boulloche J; Brivet M; Poll-The BT; Saudubray JM Eur J Pediatr; 1997 Aug; 156 Suppl 1():S78-82. PubMed ID: 9266222 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. Haworth JC; Demaugre F; Booth FA; Dilling LA; Moroz SP; Seshia SS; Seargeant LE; Coates PM J Pediatr; 1992 Oct; 121(4):553-7. PubMed ID: 1403388 [TBL] [Abstract][Full Text] [Related]
10. An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry. van Vlies N; Ruiter JP; Doolaard M; Wanders RJ; Vaz FM Mol Genet Metab; 2007 Jan; 90(1):24-9. PubMed ID: 16935015 [TBL] [Abstract][Full Text] [Related]