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 *

145 related articles for article (PubMed ID: 7711730)

  • 1. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
    Verderio E; Cavadini P; Montermini L; Wang H; Lamantea E; Finocchiaro G; DiDonato S; Gellera C; Taroni F
    Hum Mol Genet; 1995 Jan; 4(1):19-29. PubMed ID: 7711730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutations associated with carnitine palmitoyltransferase II deficiency.
    Taggart RT; Smail D; Apolito C; Vladutiu GD
    Hum Mutat; 1999; 13(3):210-20. PubMed ID: 10090476
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
    Taroni F; Verderio E; Dworzak F; Willems PJ; Cavadini P; DiDonato S
    Nat Genet; 1993 Jul; 4(3):314-20. PubMed ID: 8358442
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
    Martín MA; Rubio JC; del Hoyo P; García A; Bustos F; Campos Y; Cabello A; Culebras JM; Arenas J
    Hum Mutat; 2000 Jun; 15(6):579-80. PubMed ID: 10862092
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
    Gobin S; Bonnefont JP; Prip-Buus C; Mugnier C; Ferrec M; Demaugre F; Saudubray JM; Rostane H; Djouadi F; Wilcox W; Cederbaum S; Haas R; Nyhan WL; Green A; Gray G; Girard J; Thuillier L
    Hum Genet; 2002 Aug; 111(2):179-89. PubMed ID: 12189492
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
    Yasuno T; Kaneoka H; Tokuyasu T; Aoki J; Yoshida S; Takayanagi M; Ohtake A; Kanazawa M; Ogawa A; Tojo K; Saito T
    Clin Genet; 2008 May; 73(5):496-501. PubMed ID: 18363739
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.
    Kaufmann P; el-Schahawi M; DiMauro S
    Mol Cell Biochem; 1997 Sep; 174(1-2):237-9. PubMed ID: 9309694
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.
    Meinhardt B; Motlagh Scholle L; Seifert F; Anwand M; Pietzsch M; Zierz S
    Int J Mol Sci; 2021 May; 22(9):. PubMed ID: 34063237
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.
    Deschauer M; Chrzanowska-Lightowlers ZM; Biekmann E; Pourfarzam M; Taylor RW; Turnbull DM; Zierz S
    Mol Genet Metab; 2003 Jun; 79(2):124-8. PubMed ID: 12809643
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.
    Taroni F; Verderio E; Fiorucci S; Cavadini P; Finocchiaro G; Uziel G; Lamantea E; Gellera C; DiDonato S
    Proc Natl Acad Sci U S A; 1992 Sep; 89(18):8429-33. PubMed ID: 1528846
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
    Bruno C; Bado M; Minetti C; Cordone G; DiMauro S
    J Child Neurol; 2000 Jun; 15(6):390-3. PubMed ID: 10868782
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
    Lehmann D; Motlagh L; Robaa D; Zierz S
    Int J Mol Sci; 2017 Jan; 18(1):. PubMed ID: 28054946
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
    Wataya K; Akanuma J; Cavadini P; Aoki Y; Kure S; Invernizzi F; Yoshida I; Kira J; Taroni F; Matsubara Y; Narisawa K
    Hum Mutat; 1998; 11(5):377-86. PubMed ID: 9600456
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genomic structure of and a cardiac promoter for the mouse carnitine palmitoyltransferase II gene.
    Gelb BD
    Genomics; 1993 Dec; 18(3):651-5. PubMed ID: 8307575
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
    Corti S; Bordoni A; Ronchi D; Musumeci O; Aguennouz M; Toscano A; Lamperti C; Bresolin N; Comi GP
    J Neurol Sci; 2008 Mar; 266(1-2):97-103. PubMed ID: 17936304
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.
    Handig I; Dams E; Taroni F; Van Laere S; de Barsy T; Willems P J
    Hum Genet; 1996 Mar; 97(3):291-3. PubMed ID: 8786066
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.
    Martín MA; Rubio JC; De Bustos F; Del Hoyo P; Campos Y; García A; Börnstein B; Cabello A; Arenas J
    Muscle Nerve; 1999 Jul; 22(7):941-3. PubMed ID: 10398215
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.