BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 10873395)

  • 1. 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]  

  • 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. 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]  

  • 4. Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
    Vekemans BC; Bonnefont JP; Aupetit J; Royer G; Droin V; Attié-Bitach T; Saudubray JM; Thuillier L
    Prenat Diagn; 2003 Nov; 23(11):884-7. PubMed ID: 14634971
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
    Thuillier L; Rostane H; Droin V; Demaugre F; Brivet M; Kadhom N; Prip-Buus C; Gobin S; Saudubray JM; Bonnefont JP
    Hum Mutat; 2003 May; 21(5):493-501. PubMed ID: 12673791
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.
    Deschauer M; Wieser T; Zierz S
    Arch Neurol; 2005 Jan; 62(1):37-41. PubMed ID: 15642848
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic risk factors associated with lipid-lowering drug-induced myopathies.
    Vladutiu GD; Simmons Z; Isackson PJ; Tarnopolsky M; Peltier WL; Barboi AC; Sripathi N; Wortmann RL; Phillips PS
    Muscle Nerve; 2006 Aug; 34(2):153-62. PubMed ID: 16671104
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
    Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
    Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
    Bonnefont JP; Djouadi F; Prip-Buus C; Gobin S; Munnich A; Bastin J
    Mol Aspects Med; 2004; 25(5-6):495-520. PubMed ID: 15363638
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
    Musumeci O; Aguennouz M; Comi GP; Rodolico C; Autunno M; Bordoni A; Baratta S; Taroni F; Vita G; Toscano A
    Neuromuscul Disord; 2007 Dec; 17(11-12):960-3. PubMed ID: 17651973
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
    Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.
    van den Bosch BJ; de Coo IF; Hendrickx AT; Busch HF; de Jong G; Scholte HR; Smeets HJ
    Neuromuscul Disord; 2004 Oct; 14(10):683-8. PubMed ID: 15351426
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.