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Items: 1 to 20 of 108

1.

An audit of newborn screening procedure: impact on infants presenting clinically before results are available.

Tal G, Pitt J, Morrisy S, Tzanakos N, Boneh A.

Mol Genet Metab. 2015 Mar;114(3):403-8. doi: 10.1016/j.ymgme.2014.12.435. Epub 2015 Jan 8.

PMID:
25604974
2.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.

Hall PL, Wittenauer A, Hagar A.

Mol Genet Metab. 2014 Dec;113(4):274-7. doi: 10.1016/j.ymgme.2014.10.007. Epub 2014 Oct 16.

PMID:
25454677
3.

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

Rocha H, Castiñeiras D, Delgado C, Egea J, Yahyaoui R, González Y, Conde M, González I, Rueda I, Rello L, Vilarinho L, Cocho J.

JIMD Rep. 2014;16:89-94. doi: 10.1007/8904_2014_324. Epub 2014 Jul 11.

4.

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
5.

The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.

Jank JM, Maier EM, Reiβ DD, Haslbeck M, Kemter KF, Truger MS, Sommerhoff CP, Ferdinandusse S, Wanders RJ, Gersting SW, Muntau AC.

PLoS One. 2014 Apr 9;9(4):e93852. doi: 10.1371/journal.pone.0093852. eCollection 2014. Erratum in: PLoS One. 2014;9(8):e107094.

6.

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Derks TG, Touw CM, Ribas GS, Biancini GB, Vanzin CS, Negretto G, Mescka CP, Reijngoud DJ, Smit GP, Wajner M, Vargas CR.

J Inherit Metab Dis. 2014 Sep;37(5):783-9. doi: 10.1007/s10545-014-9700-0. Epub 2014 Mar 13.

PMID:
24623196
7.

Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.

Goetzman ES, Alcorn JF, Bharathi SS, Uppala R, McHugh KJ, Kosmider B, Chen R, Zuo YY, Beck ME, McKinney RW, Skilling H, Suhrie KR, Karunanidhi A, Yeasted R, Otsubo C, Ellis B, Tyurina YY, Kagan VE, Mallampalli RK, Vockley J.

J Biol Chem. 2014 Apr 11;289(15):10668-79. doi: 10.1074/jbc.M113.540260. Epub 2014 Mar 3.

8.

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A.

ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013.

9.

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.

Nouws J, Te Brinke H, Nijtmans LG, Houten SM.

Hum Mol Genet. 2014 Mar 1;23(5):1311-9. doi: 10.1093/hmg/ddt521. Epub 2013 Oct 24.

PMID:
24158852
10.

Fatty Acid oxidation disorders in a chinese population in taiwan.

Chien YH, Lee NC, Chao MC, Chen LC, Chen LH, Chien CC, Ho HC, Suen JH, Hwu WL.

JIMD Rep. 2013;11:165-72. doi: 10.1007/8904_2013_236. Epub 2013 May 23.

11.

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.

Prasad C, Speechley KN, Dyack S, Rupar CA, Chakraborty P, Kronick JB.

Paediatr Child Health. 2012 Apr;17(4):185-9.

12.

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.

13.

Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation.

Madsen KL, Preisler N, Orngreen MC, Andersen SP, Olesen JH, Lund AM, Vissing J.

J Clin Endocrinol Metab. 2013 Apr;98(4):1667-75. doi: 10.1210/jc.2012-3791. Epub 2013 Feb 20.

PMID:
23426616
14.

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.

15.

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.

16.

Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.

Anderson S, Botti C, Li B, Millonig JH, Lyon E, Millson A, Karabin SS, Brooks SS.

Am J Med Genet A. 2012 Sep;158A(9):2100-5. doi: 10.1002/ajmg.a.35448. Epub 2012 Jul 27.

PMID:
22848008
17.

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.

Purevsuren J, Hasegawa Y, Fukuda S, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Fukao T, Yamaguchi S.

Mol Genet Metab. 2012 Sep;107(1-2):237-40. doi: 10.1016/j.ymgme.2012.06.010. Epub 2012 Jun 26.

PMID:
22796001
18.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
19.

Birth prevalence of disorders detectable through newborn screening by race/ethnicity.

Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F.

Genet Med. 2012 Nov;14(11):937-45. doi: 10.1038/gim.2012.76. Epub 2012 Jul 5.

PMID:
22766612
20.

Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.

Thodi G, Georgiou V, Molou E, Loukas YL, Dotsikas Y, Biti S, Papadopoulos K, Doulgerakis E.

Clin Biochem. 2012 Oct;45(15):1167-72. doi: 10.1016/j.clinbiochem.2012.05.030. Epub 2012 Jun 6.

PMID:
22683754

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