Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 341

1.

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.

2.

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kølvraa S, Gregersen N.

Hum Mol Genet. 1997 May;6(5):695-707.

PMID:
9158144
3.

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
4.

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
5.

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Andresen BS, Bross P, Jensen TG, Winter V, Knudsen I, Kølvraa S, Jensen UB, Bolund L, Duran M, Kim JJ, et al.

Am J Hum Genet. 1993 Sep;53(3):730-9.

6.

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW.

Pediatr Res. 1995 May;37(5):675-8.

PMID:
7603790
7.

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
8.

Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Bross P, Jensen TG, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N.

Scand J Clin Lab Invest Suppl. 1995;220:9-25. Review.

PMID:
7652482
9.

Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.

Wang SS, Fernhoff PM, Hannon WH, Khoury MJ.

Genet Med. 1999 Nov-Dec;1(7):332-9.

PMID:
11263545
10.

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 30;4(7):e6449. doi: 10.1371/journal.pone.0006449.

11.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Van Hove JL, Zhang W, Kahler SG, Roe CR, Chen YT, Terada N, Chace DH, Iafolla AK, Ding JH, Millington DS.

Am J Hum Genet. 1993 May;52(5):958-66.

12.

Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Andresen BS, Jensen TG, Bross P, Knudsen I, Winter V, Kølvraa S, Bolund L, Ding JH, Chen YT, Van Hove JL, et al.

Am J Hum Genet. 1994 Jun;54(6):975-88.

13.

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.

Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B.

Arch Dis Child Fetal Neonatal Ed. 2001 Sep;85(2):F105-9.

14.

Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

Clayton PT, Doig M, Ghafari S, Meaney C, Taylor C, Leonard JV, Morris M, Johnson AW.

Arch Dis Child. 1998 Aug;79(2):109-15.

16.

Molecular and functional characterisation of mild MCAD deficiency.

Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E.

Hum Genet. 2001 May;108(5):404-8.

PMID:
11409868
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.

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, Gregersen N, Andresen BS, Matsubara Y, Curtis D, et al.

Hum Mutat. 1992;1(4):271-9. Review.

PMID:
1363805
19.

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
20.

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.

Lilleväli H, Margus K, Ounap K, Metspalu A.

Hum Mutat. 2000 Mar;15(3):293-4.

PMID:
10679947

Supplemental Content

Support Center