BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 10398215)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
    Joshi PR; Deschauer M; Zierz S
    J Neurol Sci; 2014 Mar; 338(1-2):107-11. PubMed ID: 24398345
    [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. 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]  

  • 9. 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]  

  • 10. First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
    Shima A; Yasuno T; Yamada K; Yamaguchi M; Kohno R; Yamaguchi S; Kido H; Fukuda H
    Intern Med; 2016; 55(18):2659-61. PubMed ID: 27629963
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
    Spiegel R; Shaag A; Gutman A; Korman SH; Saada A; Elpeleg O; Shalev SA
    J Inherit Metab Dis; 2007 Apr; 30(2):266. PubMed ID: 17372854
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.
    Vladutiu GD
    Muscle Nerve; 1999 Jul; 22(7):949-51. PubMed ID: 10398218
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.
    Vladutiu GD; Bennett MJ; Fisher NM; Smail D; Boriack R; Leddy J; Pendergast DR
    Muscle Nerve; 2002 Oct; 26(4):492-8. PubMed ID: 12362414
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.