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Items: 1 to 20 of 212

1.

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
2.

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
3.

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS.

Clin Chim Acta. 2003 Nov;337(1-2):103-13.

PMID:
14568186
4.

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
5.

A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.

Battisti C, Forte F, Molinelli M, Funghini S, Pasquini E, Tassini M, Dotti MT, Federico A.

Neurol Sci. 2007 Dec;28(6):328-30. doi: 10.1007/s10072-007-0847-4. Epub 2008 Jan 4.

PMID:
18175080
6.

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
7.

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.

Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Review.

PMID:
20376488
8.

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.

10.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
11.

Structural organization of the human short-chain acyl-CoA dehydrogenase gene.

Corydon MJ, Andresen BS, Bross P, Kjeldsen M, Andreasen PH, Eiberg H, Kølvraa S, Gregersen N.

Mamm Genome. 1997 Dec;8(12):922-6.

PMID:
9383286
12.

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N.

Mol Genet Metab. 2008 Feb;93(2):179-89. Epub 2007 Dec 3.

PMID:
18054510
13.

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
14.

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
15.
16.

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.

17.

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.

Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, Gregersen N.

J Biol Chem. 2003 Nov 28;278(48):47449-58. Epub 2003 Sep 23.

18.

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
19.

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA.

Mol Genet Metab. 2005 May;85(1):7-11. Epub 2005 Feb 16.

PMID:
15862275
20.

Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].

Maier EM, Pongratz J, Muntau AC, Liebl B, Nennstiel-Ratzel U, Busch U, Fingerhut R, Olgemöller B, Roscher AA, Röschinger W.

Clin Genet. 2009 Aug;76(2):179-87. doi: 10.1111/j.1399-0004.2009.01217.x. Erratum in: Clin Genet. 2010 Mar;77(3):304.

PMID:
19780764

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