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 *

172 related articles for article (PubMed ID: 10518280)

  • 1. Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.
    Merinero B; Pascual Pascual SI; Pérez-Cerdá C; Gangoiti J; Castro M; Garcia MJ; Pascual Castroviejo I; Vianey-Saban C; Andresen B; Gregersen N; Ugarte M
    J Inherit Metab Dis; 1999 Oct; 22(7):802-10. PubMed ID: 10518280
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
    Hisahara S; Matsushita T; Furuyama H; Tajima G; Shigematsu Y; Imai T; Shimohama S
    Tohoku J Exp Med; 2015 Apr; 235(4):305-10. PubMed ID: 25843429
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
    Pena LD; van Calcar SC; Hansen J; Edick MJ; Walsh Vockley C; Leslie N; Cameron C; Mohsen AW; Berry SA; Arnold GL; Vockley J;
    Mol Genet Metab; 2016 Aug; 118(4):272-81. PubMed ID: 27209629
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Laforêt P; Acquaviva-Bourdain C; Rigal O; Brivet M; Penisson-Besnier I; Chabrol B; Chaigne D; Boespflug-Tanguy O; Laroche C; Bedat-Millet AL; Behin A; Delevaux I; Lombès A; Andresen BS; Eymard B; Vianey-Saban C
    Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency].
    Ito Y; Nakano K; Shishikura K; Suzuki H; Iida N; Sasaki N; Kimura M; Hasegawa Y; Yamaguchi S; Osawa M
    No To Hattatsu; 2003 Nov; 35(6):491-7. PubMed ID: 14631745
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Rovelli V; Manzoni F; Viau K; Pasquali M; Longo N
    Mol Genet Metab; 2019 May; 127(1):64-73. PubMed ID: 31031081
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.
    Antunes AP; Nogueira C; Rocha H; Vilarinho L; Evangelista T
    J Clin Neuromuscul Dis; 2013 Dec; 15(2):69-72. PubMed ID: 24263034
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
    Tenopoulou M; Chen J; Bastin J; Bennett MJ; Ischiropoulos H; Doulias PT
    J Biol Chem; 2015 Apr; 290(16):10486-94. PubMed ID: 25737446
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
    Burrage LC; Miller MJ; Wong LJ; Kennedy AD; Sutton VR; Sun Q; Elsea SH; Graham BH
    J Pediatr; 2016 Feb; 169():208-13.e2. PubMed ID: 26602010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
    Djouadi F; Aubey F; Schlemmer D; Ruiter JP; Wanders RJ; Strauss AW; Bastin J
    Hum Mol Genet; 2005 Sep; 14(18):2695-703. PubMed ID: 16115821
    [TBL] [Abstract][Full Text] [Related]  

  • 11. One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
    Li X; Ma R; Liu Y; Kang L; He R; Song J; Ren J; Li Y; Huang M; Men J; Yang Y
    Clin Chim Acta; 2020 Apr; 503():218-222. PubMed ID: 31794763
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
    Gobin-Limballe S; Djouadi F; Aubey F; Olpin S; Andresen BS; Yamaguchi S; Mandel H; Fukao T; Ruiter JP; Wanders RJ; McAndrew R; Kim JJ; Bastin J
    Am J Hum Genet; 2007 Dec; 81(6):1133-43. PubMed ID: 17999356
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
    Korematsu S; Kosugi Y; Kumamoto T; Yamaguchi S; Izumi T
    Pediatr Neurol; 2009 Aug; 41(2):151-3. PubMed ID: 19589468
    [TBL] [Abstract][Full Text] [Related]  

  • 14. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
    Evans M; Andresen BS; Nation J; Boneh A
    Mol Genet Metab; 2016 Aug; 118(4):282-7. PubMed ID: 27246109
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
    Shchelochkov O; Wong LJ; Shaibani A; Shinawi M
    Muscle Nerve; 2009 Mar; 39(3):374-82. PubMed ID: 19208414
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo fatty acid biosynthesis and elongation in very long-chain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids.
    Tucci S; Behringer S; Spiekerkoetter U
    FEBS J; 2015 Nov; 282(21):4242-53. PubMed ID: 26284828
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
    Scalais E; Bottu J; Wanders RJ; Ferdinandusse S; Waterham HR; De Meirleir L
    Am J Med Genet A; 2015 Jan; 167A(1):211-4. PubMed ID: 25338548
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
    Tucci S; Flögel U; Hermann S; Sturm M; Schäfers M; Spiekerkoetter U
    Biochim Biophys Acta; 2014 May; 1842(5):677-85. PubMed ID: 24530811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.
    Keeler AM; Conlon T; Walter G; Zeng H; Shaffer SA; Dungtao F; Erger K; Cossette T; Tang Q; Mueller C; Flotte TR
    Mol Ther; 2012 Jun; 20(6):1131-8. PubMed ID: 22395529
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
    Miller MJ; Burrage LC; Gibson JB; Strenk ME; Lose EJ; Bick DP; Elsea SH; Sutton VR; Sun Q; Graham BH; Craigen WJ; Zhang VW; Wong LJ
    Mol Genet Metab; 2015 Nov; 116(3):139-45. PubMed ID: 26385305
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.