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Journal Abstract Search

468 related items for PubMed ID: 20036593

  • 1. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
    Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M.
    Mol Genet Metab; 2010 Mar; 99(3):263-8. PubMed ID: 20036593
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  • 4. 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
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  • 5. 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 Jan; 7(5):339-43. PubMed ID: 15915086
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  • 10. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.
    Blois B, Riddell C, Dooley K, Dyack S.
    J Inherit Metab Dis; 2005 Jan; 28(4):551-6. PubMed ID: 15902558
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Chang IJ, Lam C, Vockley J.
    ; 1993 Jan. PubMed ID: 20301597
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  • 15. 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
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  • 17. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
    Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N.
    Am J Hum Genet; 2001 Jun; 68(6):1408-18. PubMed ID: 11349232
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  • 19. 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
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