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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]  

  • 9. Carnitine palmityl transferase I deficiency.
    Al-Aqeel AI; Rashed MS; Ruiter JP; Al-Husseini HF; Al-Amoudi MS; Wanders RJ
    Saudi Med J; 2001 Nov; 22(11):1025-9. PubMed ID: 11744980
    [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]  

  • 11. [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].
    Eirís J; Ribes A; Fernández-Prieto R; Rodríguez-García J; Rodríguez-Segade S; Castro-Gago M
    Rev Neurol; 1998 Jun; 26(154):911-4. PubMed ID: 9658458
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Serum and urinary carnitine and organic acids in Reye syndrome and Reye-like syndrome.
    Sugimoto T; Nishida N; Woo M; Takeuchi T; Yasuhara A; Kobayashi Y; Sakane Y
    Brain Dev; 1986; 8(3):257-61. PubMed ID: 3766902
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
    Thuillier L; Sevin C; Demaugre F; Brivet M; Rabier D; Droin V; Aupetit J; Abadi N; Kamoun P; Saudubray JM; Bonnefont JP
    Neuromuscul Disord; 2000 Mar; 10(3):200-5. PubMed ID: 10734268
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.
    Demaugre F; Bonnefont JP; Mitchell G; Nguyen-Hoang N; Pelet A; Rimoldi M; Di Donato S; Saudubray JM
    Pediatr Res; 1988 Sep; 24(3):308-11. PubMed ID: 3211616
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.
    Meola G; Bresolin N; Rimoldi M; Velicogna M; Fortunato F; Scarlato G
    J Neurol; 1987 Dec; 235(2):74-9. PubMed ID: 3430194
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency].
    Rufini S; Bragetti P; Brunelli B; Campolo G; Lato M
    Pediatr Med Chir; 1993; 15(1):63-6. PubMed ID: 8488129
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.
    DiDonato S; Cornelio F; Pacini L; Peluchetti D; Rimoldi M; Spreafico S
    Ann Neurol; 1978 Nov; 4(5):465-7. PubMed ID: 736528
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
    Ogawa E; Kanazawa M; Yamamoto S; Ohtsuka S; Ogawa A; Ohtake A; Takayanagi M; Kohno Y
    J Hum Genet; 2002; 47(7):342-7. PubMed ID: 12111367
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Effect of methylglyoxal bis(guanylhydrazone) on hepatic, heart and skeletal muscle mitochondrial carnitine palmitoyltransferase and beta-oxidation of fatty acids.
    Brady LJ; Brady PS; Gandour RD
    Biochem Pharmacol; 1987 Feb; 36(4):447-52. PubMed ID: 3827937
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.