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Items: 1 to 20 of 152

1.

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. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8.

PMID:
20434380
2.

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B.

Mol Genet Metab. 2006 Jan;87(1):32-9. Epub 2005 Nov 15.

PMID:
16291504
3.

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 May-Jun;7(5):339-43.

PMID:
15915086
4.

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;28(4):551-6.

PMID:
15902558
5.

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Woo HI, Park HD, Lee YW, Lee DH, Ki CS, Lee SY, Kim JW.

Korean J Lab Med. 2011 Jan;31(1):54-60. doi: 10.3343/kjlm.2011.31.1.54.

6.

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 30;16:56. doi: 10.1186/s12881-015-0199-5.

7.

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. Epub 2001 May 8.

8.

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. doi: 10.1016/j.ymgme.2012.10.016. Epub 2012 Oct 24.

9.

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Rhead WJ.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7. Review.

PMID:
16763904
10.

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U.

PLoS One. 2012;7(9):e45110. doi: 10.1371/journal.pone.0045110. Epub 2012 Sep 17.

11.

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 Jul-Aug;99(4):276-80.

PMID:
18767270
12.

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 25;7:30. doi: 10.1186/1750-1172-7-30.

13.

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22.

PMID:
20567907
14.
15.

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. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4.

PMID:
22542437
16.

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

Dessein AF, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Millington DS, Vianey-Saban C, Wanders RJ, Vamecq J.

Orphanet J Rare Dis. 2010 Oct 5;5:26. doi: 10.1186/1750-1172-5-26.

17.

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA.

Hum Mutat. 2005 May;25(5):443-52.

PMID:
15832312
18.

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. doi: 10.1111/cge.12227. Epub 2013 Jul 28.

PMID:
23829193
19.

Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.

Leal J, Ades AE, Wordsworth S, Dezateux C.

Clin Genet. 2014 Mar;85(3):253-9. doi: 10.1111/cge.12157. Epub 2013 May 3.

PMID:
23574375
20.

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.

Giroux S, Dubé-Linteau A, Cardinal G, Labelle Y, Laflamme N, Giguère Y, Rousseau F.

Clin Genet. 2007 Jun;71(6):569-75.

PMID:
17539907

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