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 *

106 related articles for article (PubMed ID: 12013980)

  • 1. [Carnitine palmitoyltransferase II deficiency].
    Yorifuji S
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():712-3. PubMed ID: 12013980
    [No Abstract]   [Full Text] [Related]  

  • 2. [Carnitine palmitoyltransferase I deficiency].
    Yorifuji S
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():710-1. PubMed ID: 12013979
    [No Abstract]   [Full Text] [Related]  

  • 3. [Carnitine palmitoyltransferase II(CPT2) deficiency].
    Yorifuji S
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):405-6. PubMed ID: 9590084
    [No Abstract]   [Full Text] [Related]  

  • 4. [Carnitine palmitoyltransferase I(CPT1) deficiency].
    Yorifuji S
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):401-2. PubMed ID: 9590082
    [No Abstract]   [Full Text] [Related]  

  • 5. [Carnitine palmitoyltransferase deficiency].
    Yorifuji S
    Ryoikibetsu Shokogun Shirizu; 2001; (36):54-6. PubMed ID: 11596449
    [No Abstract]   [Full Text] [Related]  

  • 6. A novel mutation identified in carnitine palmitoyltransferase II deficiency.
    Yang BZ; Ding JH; Roe D; Dewese T; Day DW; Roe CR
    Mol Genet Metab; 1998 Feb; 63(2):110-5. PubMed ID: 9562964
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency.
    Deutsch M; Vassilopoulos D; Sevastos N; Papadimitriou A; Vasiliou K; Archimandritis AJ
    Eur J Intern Med; 2008 Jun; 19(4):289-91. PubMed ID: 18471680
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
    Smeets RJ; Smeitink JA; Semmekrot BA; Scholte HR; Wanders RJ; van den Heuvel LP
    J Hum Genet; 2003; 48(1):8-13. PubMed ID: 12560872
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency].
    Akanuma J; Wataya K; Matubara Y; Yamamoto T; Kira J; Narisawa K
    Rinsho Shinkeigaku; 1997 Jun; 37(6):532-5. PubMed ID: 9366186
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Carnitine palmitoyltransferase deficiency.
    Hoppel CL
    Prog Clin Biol Res; 1990; 321():435-50. PubMed ID: 2183239
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. [Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy].
    Imoberdorf R; Krähenbühl S; Krapf R
    Schweiz Med Wochenschr; 1998 Jun; 128(25):1024-9. PubMed ID: 9691338
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Acute renal failure due to carnitine palmitoyltransferase II deficiency.
    Uzel B; Altiparmak MR; Ataman R; Serdengeçti K
    Neth J Med; 2003 Dec; 61(12):417-20. PubMed ID: 15025419
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Carnitine palmitoyltransferase deficiencies.
    Bonnefont JP; Demaugre F; Prip-Buus C; Saudubray JM; Brivet M; Abadi N; Thuillier L
    Mol Genet Metab; 1999 Dec; 68(4):424-40. PubMed ID: 10607472
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.
    Deschauer M; Wieser T; Schröder R; Zierz S
    Mol Genet Metab; 2002 Feb; 75(2):181-5. PubMed ID: 11855939
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review.
    Faigel HC
    J Am Coll Health; 1995 Sep; 44(2):51-4. PubMed ID: 7593992
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
    Isackson PJ; Bennett MJ; Vladutiu GD
    Mol Genet Metab; 2006 Dec; 89(4):323-31. PubMed ID: 16996287
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.
    Semba S; Yasujima H; Takano T; Yokozaki H
    Pathol Int; 2008 Jul; 58(7):436-41. PubMed ID: 18577113
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.
    Taroni F; Verderio E; Garavaglia B; Fiorucci S; Finocchiaro G; Uziel G; DiDonato S
    Prog Clin Biol Res; 1992; 375():521-31. PubMed ID: 1438396
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
    Bennett MJ; Boriack RL; Narayan S; Rutledge SL; Raff ML
    Mol Genet Metab; 2004 May; 82(1):59-63. PubMed ID: 15110323
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.