BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 9366186)

  • 1. [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]  

  • 2. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
    IJlst L; Mandel H; Oostheim W; Ruiter JP; Gutman A; Wanders RJ
    J Clin Invest; 1998 Aug; 102(3):527-31. PubMed ID: 9691089
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.
    Vladutiu GD; Bennett MJ; Smail D; Wong LJ; Taggart RT; Lindsley HB
    Mol Genet Metab; 2000 Jun; 70(2):134-41. PubMed ID: 10873395
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
    Yang BZ; Ding JH; Dewese T; Roe D; He G; Wilkinson J; Day DW; Demaugre F; Rabier D; Brivet M; Roe C
    Mol Genet Metab; 1998 Aug; 64(4):229-36. PubMed ID: 9758712
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases.
    Kilfoyle D; Hutchinson D; Potter H; George P
    N Z Med J; 2005 Feb; 118(1210):U1320. PubMed ID: 15776096
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Tandem mass spectrometric assay for the determination of carnitine palmitoyltransferase II activity in muscle tissue.
    Rettinger A; Gempel K; Hofmann S; Gerbitz KD; Bauer MF
    Anal Biochem; 2002 Mar; 302(2):246-51. PubMed ID: 11878804
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
    Ørngreen MC; Dunø M; Ejstrup R; Christensen E; Schwartz M; Sacchetti M; Vissing J
    Ann Neurol; 2005 Jan; 57(1):60-6. PubMed ID: 15622536
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.
    Kaneoka H; Uesugi N; Moriguchi A; Hirose S; Takayanagi M; Yamaguchi S; Shigematsu Y; Yasuno T; Sasatomi Y; Saito T
    Am J Kidney Dis; 2005 Mar; 45(3):596-602. PubMed ID: 15754283
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.