BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

274 related articles for article (PubMed ID: 14605500)

  • 1. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
    Olpin SE; Afifi A; Clark S; Manning NJ; Bonham JR; Dalton A; Leonard JV; Land JM; Andresen BS; Morris AA; Muntoni F; Turnbull D; Pourfarzam M; Rahman S; Pollitt RJ
    J Inherit Metab Dis; 2003; 26(6):543-57. PubMed ID: 14605500
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
    Joshi PR; Zierz S
    Molecules; 2020 Apr; 25(8):. PubMed ID: 32295037
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
    Schaefer J; Jackson S; Taroni F; Swift P; Turnbull DM
    J Neurol Neurosurg Psychiatry; 1997 Feb; 62(2):169-76. PubMed ID: 9048718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
    Demaugre F; Bonnefont JP; Colonna M; Cepanec C; Leroux JP; Saudubray JM
    J Clin Invest; 1991 Mar; 87(3):859-64. PubMed ID: 1999498
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
    Yao M; Cai M; Yao D; Xu X; Yang R; Li Y; Zhang Y; Kido H; Yao D
    PLoS One; 2015; 10(3):e0119936. PubMed ID: 25781464
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
    Serra G; Antona V; Insinga V; Morgante G; Vassallo A; Placa S; Piro E; Salerno S; Schierz IAM; Gitto E; Giuffrè M; Corsello G
    Ital J Pediatr; 2024 Apr; 50(1):67. PubMed ID: 38616285
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.
    Angelini C; Trevisan C; Isaya G; Pegolo G; Vergani L
    Clin Biochem; 1987 Feb; 20(1):1-7. PubMed ID: 3552320
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.