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 *

154 related articles for article (PubMed ID: 27029698)

  • 1. A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.
    Bu Q; Pan Z
    Indian Pediatr; 2016 Mar; 53(3):262. PubMed ID: 27029698
    [No Abstract]   [Full Text] [Related]  

  • 2. Two Novel Missense Mutations in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
    Yang B; Wang F
    Indian Pediatr; 2018 Mar; 55(3):261-262. PubMed ID: 29629707
    [No Abstract]   [Full Text] [Related]  

  • 3. A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency.
    Murata KY; Sugie H; Nishino I; Kondo T; Ito H
    Muscle Nerve; 2014 Feb; 49(2):295-6. PubMed ID: 23966064
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
    Li X; Ding Y; Ma Y; Liu Y; Wang Q; Song J; Yang Y
    Eur J Med Genet; 2015 Mar; 58(3):134-9. PubMed ID: 25652019
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
    Bleeker JC; Kok IL; Ferdinandusse S; van der Pol WL; Cuppen I; Bosch AM; Langeveld M; Derks TGJ; Williams M; de Vries M; Mulder MF; Gozalbo ER; de Sain-van der Velden MGM; Rennings AJ; Schielen PJCI; Dekkers E; Houtkooper RH; Waterham HR; Pras-Raves ML; Wanders RJA; van Hasselt PM; Schoenmakers M; Wijburg FA; Visser G
    J Inherit Metab Dis; 2019 May; 42(3):414-423. PubMed ID: 30761551
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.
    Siu WK; Mak CM; Siu SL; Siu TS; Pang CY; Lam CW; Kwong NS; Chan AY
    Diagn Mol Pathol; 2012 Sep; 21(3):184-7. PubMed ID: 22847164
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
    Schiff M; Mohsen AW; Karunanidhi A; McCracken E; Yeasted R; Vockley J
    Mol Genet Metab; 2013 May; 109(1):21-7. PubMed ID: 23480858
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.
    Coughlin CR; Ficicioglu C
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S129-31. PubMed ID: 20107901
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
    Hesse J; Braun C; Behringer S; Matysiak U; Spiekerkoetter U; Tucci S
    J Inherit Metab Dis; 2018 Nov; 41(6):1169-1178. PubMed ID: 30194637
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pearson syndrome in a Diamond-Blackfan anemia cohort.
    Alter BP
    Blood; 2014 Jul; 124(3):312-3. PubMed ID: 25035146
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.
    Sur L; Floca E; Samasca G; Lupan I; Aldea C; Sur G
    Clin Lab; 2018 Mar; 64(3):375-377. PubMed ID: 29739102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcome.
    Sedgwick ER
    J Pediatr Nurs; 2013; 28(4):379-82. PubMed ID: 23238219
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.
    Aharoni S; Sadeh M; Silver EL; Straussberg R
    Isr Med Assoc J; 2011 Oct; 13(10):632-4. PubMed ID: 22097235
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report.
    Park J; Ryu H; Jang W; Chae H; Kim M; Kim Y; Kim J; Lee JW; Chung NG; Cho B; Suh BK
    Mol Med Rep; 2015 May; 11(5):3741-5. PubMed ID: 25543536
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.
    Finsterer J; Scorza FA; Scorza CA
    Med Arch; 2018 Jun; 72(3):234-236. PubMed ID: 30061775
    [No Abstract]   [Full Text] [Related]  

  • 19. Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.
    Eminoglu TF; Tumer L; Okur I; Ezgu FS; Biberoglu G; Hasanoglu A
    Forensic Sci Int; 2011 Jul; 210(1-3):e1-3. PubMed ID: 21531094
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?
    Bastin J; Bonnefont JP; Djouadi F; Bresson JL
    J Inherit Metab Dis; 2015 Mar; 38(2):371-2. PubMed ID: 25310995
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.