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 *

526 related articles for article (PubMed ID: 24503138)

  • 1. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
    Merritt JL; Vedal S; Abdenur JE; Au SM; Barshop BA; Feuchtbaum L; Harding CO; Hermerath C; Lorey F; Sesser DE; Thompson JD; Yu A
    Mol Genet Metab; 2014 Apr; 111(4):484-92. PubMed ID: 24503138
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
    McGoey RR; Marble M
    J Pediatr; 2011 Jun; 158(6):1031-2. PubMed ID: 21429517
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
    Ryder B; Knoll D; Love DR; Shepherd P; Love JM; Reed PW; de Hora M; Webster D; Glamuzina E; Wilson C
    J Inherit Metab Dis; 2016 May; 39(3):409-414. PubMed ID: 26743058
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
    Peng G; Tang Y; Gandotra N; Enns GM; Cowan TM; Zhao H; Scharfe C
    J Inherit Metab Dis; 2020 Sep; 43(5):934-943. PubMed ID: 32216101
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
    Spiekerkoetter U; Haussmann U; Mueller M; ter Veld F; Stehn M; Santer R; Lukacs Z
    J Pediatr; 2010 Oct; 157(4):668-73. PubMed ID: 20547398
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
    Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
    Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Bleeker JC; Kok IL; Ferdinandusse S; de Vries M; Derks TGJ; Mulder MF; Williams M; Gozalbo ER; Bosch AM; van den Hurk DT; de Sain-van der Velden MGM; Waterham HR; Wijburg FA; Visser G
    J Inherit Metab Dis; 2019 Jan; 42(1):159-168. PubMed ID: 30740737
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
    Landau YE; Waisbren SE; Chan LM; Levy HL
    J Inherit Metab Dis; 2017 Mar; 40(2):209-218. PubMed ID: 28054209
    [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. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
    Liebig M; Schymik I; Mueller M; Wendel U; Mayatepek E; Ruiter J; Strauss AW; Wanders RJ; Spiekerkoetter U
    Pediatrics; 2006 Sep; 118(3):1065-9. PubMed ID: 16950999
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
    Schymik I; Liebig M; Mueller M; Wendel U; Mayatepek E; Strauss AW; Wanders RJ; Spiekerkoetter U
    J Pediatr; 2006 Jul; 149(1):128-30. PubMed ID: 16860141
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
    Janeiro P; Jotta R; Ramos R; Florindo C; Ventura FV; Vilarinho L; Tavares de Almeida I; Gaspar A
    Eur J Pediatr; 2019 Mar; 178(3):387-394. PubMed ID: 30617651
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Next generation sequencing as a follow-up test in an expanded newborn screening programme.
    Smon A; Repic Lampret B; Groselj U; Zerjav Tansek M; Kovac J; Perko D; Bertok S; Battelino T; Trebusak Podkrajsek K
    Clin Biochem; 2018 Feb; 52():48-55. PubMed ID: 29111448
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
    Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
    Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening.
    Ficicioglu C; Hussa C
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S187-90. PubMed ID: 19333779
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 27.