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 *

321 related articles for article (PubMed ID: 27856190)

  • 1. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
    Tajima G; Hara K; Tsumura M; Kagawa R; Okada S; Sakura N; Hata I; Shigematsu Y; Kobayashi M
    Mol Genet Metab; 2016 Dec; 119(4):322-328. PubMed ID: 27856190
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
    Hara K; Tajima G; Okada S; Tsumura M; Kagawa R; Shirao K; Ohno Y; Yasunaga S; Ohtsubo M; Hata I; Sakura N; Shigematsu Y; Takihara Y; Kobayashi M
    Mol Genet Metab; 2016 May; 118(1):9-14. PubMed ID: 26947917
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
    Tucci S; Wagner C; Grünert SC; Matysiak U; Weinhold N; Klein J; Porta F; Spada M; Bordugo A; Rodella G; Furlan F; Sajeva A; Menni F; Spiekerkoetter U
    J Inherit Metab Dis; 2021 Jul; 44(4):916-925. PubMed ID: 33580884
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
    Ensenauer R; Winters JL; Parton PA; Kronn DF; Kim JW; Matern D; Rinaldo P; Hahn SH
    Genet Med; 2005; 7(5):339-43. PubMed ID: 15915086
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
    Smith EH; Thomas C; McHugh D; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Highsmith WE; Oglesbee D
    Mol Genet Metab; 2010 Jul; 100(3):241-50. PubMed ID: 20434380
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Anderson DR; Viau K; Botto LD; Pasquali M; Longo N
    Mol Genet Metab; 2020 Jan; 129(1):13-19. PubMed ID: 31836396
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
    Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
    J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
    Grünert SC; Wehrle A; Villavicencio-Lorini P; Lausch E; Vetter B; Schwab KO; Tucci S; Spiekerkoetter U
    BMC Med Genet; 2015 Jul; 16():56. PubMed ID: 26223887
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
    Hall PL; Wittenauer A; Hagar A
    Mol Genet Metab; 2014 Dec; 113(4):274-7. PubMed ID: 25454677
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
    Horvath GA; Davidson AG; Stockler-Ipsiroglu SG; Lillquist YP; Waters PJ; Olpin S; Andresen BS; Palaty J; Nelson J; Vallance H
    Can J Public Health; 2008; 99(4):276-80. PubMed ID: 18767270
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
    McCandless SE; Chandrasekar R; Linard S; Kikano S; Rice L
    Mol Genet Metab; 2013 Jan; 108(1):51-5. PubMed ID: 23151387
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
    Derks TG; Boer TS; van Assen A; Bos T; Ruiter J; Waterham HR; Niezen-Koning KE; Wanders RJ; Rondeel JM; Loeber JG; Ten Kate LP; Smit GP; Reijngoud DJ
    J Inherit Metab Dis; 2008 Feb; 31(1):88-96. PubMed ID: 18188679
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
    Rhead WJ
    J Inherit Metab Dis; 2006; 29(2-3):370-7. PubMed ID: 16763904
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
    Smon A; Groselj U; Debeljak M; Zerjav Tansek M; Bertok S; Avbelj Stefanija M; Trebusak Podkrajsek K; Battelino T; Repic Lampret B
    J Int Med Res; 2018 Apr; 46(4):1339-1348. PubMed ID: 29350094
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
    Touw CM; Smit GP; de Vries M; de Klerk JB; Bosch AM; Visser G; Mulder MF; Rubio-Gozalbo ME; Elvers B; Niezen-Koning KE; Wanders RJ; Waterham HR; Reijngoud DJ; Derks TG
    Orphanet J Rare Dis; 2012 May; 7():30. PubMed ID: 22630369
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
    ter Veld F; Mueller M; Kramer S; Haussmann U; Herebian D; Mayatepek E; Laryea MD; Primassin S; Spiekerkoetter U
    PLoS One; 2009 Jul; 4(7):e6449. PubMed ID: 19649258
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
    Ventura FV; Leandro P; Luz A; Rivera IA; Silva MF; Ramos R; Rocha H; Lopes A; Fonseca H; Gaspar A; Diogo L; Martins E; Leão-Teles E; Vilarinho L; Tavares de Almeida I
    Clin Genet; 2014 Jun; 85(6):555-61. PubMed ID: 23829193
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MCAD deficiency in Denmark.
    Andresen BS; Lund AM; Hougaard DM; Christensen E; Gahrn B; Christensen M; Bross P; Vested A; Simonsen H; Skogstrand K; Olpin S; Brandt NJ; Skovby F; Nørgaard-Pedersen B; Gregersen N
    Mol Genet Metab; 2012 Jun; 106(2):175-88. PubMed ID: 22542437
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
    Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA;
    Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
    Koster KL; Sturm M; Herebian D; Smits SH; Spiekerkoetter U
    J Inherit Metab Dis; 2014 Nov; 37(6):917-28. PubMed ID: 24966162
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.