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Results: 1 to 20 of 104

Similar articles for PubMed (Select 23509891)

1.

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.

Touw CM, Smit GP, Niezen-Koning KE, Bosgraaf-de Boer C, Gerding A, Reijngoud DJ, Derks TG.

Orphanet J Rare Dis. 2013 Mar 20;8:43. doi: 10.1186/1750-1172-8-43.

2.

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.

3.

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.

4.

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, Niezen-Koning KE, Wanders RJ, Rondeel JM, Loeber JG, Ten Kate LP, Smit GP, Reijngoud DJ.

J Inherit Metab Dis. 2008 Feb;31(1):88-96. doi: 10.1007/s10545-007-0492-3. Epub 2008 Jan 14.

PMID:
18188679
5.

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.

6.

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.

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.

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
9.

Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice.

Herrema H, Derks TG, van Dijk TH, Bloks VW, Gerding A, Havinga R, Tietge UJ, Müller M, Smit GP, Kuipers F, Reijngoud DJ.

Hepatology. 2008 Jun;47(6):1894-904. doi: 10.1002/hep.22284.

PMID:
18459129
10.

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
11.

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
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.

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS.

Eur J Biochem. 2004 Oct;271(20):4053-63.

15.

Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.

Koster KL, Sturm M, Herebian D, Smits SH, Spiekerkoetter U.

J Inherit Metab Dis. 2014 Nov;37(6):917-28. doi: 10.1007/s10545-014-9732-5. Epub 2014 Jun 26.

PMID:
24966162
16.
17.

Mutation of Tyr375 to Lys375 allows medium-chain acyl-CoA dehydrogenase to acquire acyl-CoA oxidase activity.

Zeng J, Liu Y, Wu L, Li D.

Biochim Biophys Acta. 2007 Dec;1774(12):1628-34. Epub 2007 Aug 30.

PMID:
18061544
18.

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.

Lovera C, Porta F, Caciotti A, Catarzi S, Cassanello M, Caruso U, Gallina MR, Morrone A, Spada M.

Ital J Pediatr. 2012 Oct 24;38:59. doi: 10.1186/1824-7288-38-59.

19.

Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency.

Heales SJ, Thompson GN, Massoud AF, Rahman S, Halliday D, Leonard JV.

J Inherit Metab Dis. 1994;17(1):74-80.

PMID:
8051939
20.

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
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