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Items: 1 to 20 of 80

1.

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS.

Pediatr Res. 2006 Sep;60(3):315-20. Epub 2006 Jul 20.

PMID:
16857760
2.

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS.

Pediatr Res. 2003 Aug;54(2):219-23. Epub 2003 May 7.

PMID:
12736383
3.
4.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D.

Genet Med. 2007 Feb;9(2):108-16.

PMID:
17304052
5.

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

van Maldegem BT, Waterham HR, Duran M, van der Vlies M, van Woerden CS, Bobu LL, Wanders RJ, Wijburg FA.

J Inherit Metab Dis. 2005;28(4):557-62.

PMID:
15902559
6.

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

Sass JO, Sander S, Zschocke J.

J Inherit Metab Dis. 2004;27(6):741-5.

PMID:
15505379
7.

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.

Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D.

Mol Genet Metab. 2003 Apr;78(4):239-46.

PMID:
12706374
8.

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.

Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S.

Hum Mol Genet. 1998 Apr;7(4):619-27.

PMID:
9499414
9.

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N.

Pediatr Res. 2001 Jan;49(1):18-23.

PMID:
11134486
10.

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.

11.

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.

PMID:
16950999
12.

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.

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.

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
15.

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.

PMID:
16860141
16.

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria.

Corydon TJ, Bross P, Jensen TG, Corydon MJ, Lund TB, Jensen UB, Kim JJ, Gregersen N, Bolund L.

J Biol Chem. 1998 May 22;273(21):13065-71.

18.

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
19.

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
20.

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. doi: 10.1016/j.jpeds.2010.04.063. Epub 2010 Jun 12.

PMID:
20547398

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