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Items: 1 to 20 of 99

1.

Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.

Sabbagha NG, Kao HJ, Yang CF, Huang CC, Lin WD, Tsai FJ, Chen TH, Tarn WY, Wu JY, Chen YT.

Pediatr Res. 2011 Jul;70(1):31-6. doi: 10.1203/PDR.0b013e31821b89ee.

PMID:
21659959
2.

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F.

Am J Hum Genet. 2000 Nov;67(5):1095-103. Epub 2000 Sep 29.

3.

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
4.

Genotype-based databases for variants causing rare diseases.

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M.

Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.

PMID:
25111118
5.

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.

Yun JW, Jo KI, Woo HI, Lee SY, Ki CS, Kim JW, Song J, Lee DH, Lee YW, Park HD.

Clin Genet. 2015 Feb;87(2):196-8. doi: 10.1111/cge.12350. Epub 2014 Feb 21. No abstract available.

PMID:
24635911
6.

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79.

PMID:
12359132
7.
8.

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.

Hum Pathol. 2016 Mar;49:27-32. doi: 10.1016/j.humpath.2015.09.039. Epub 2015 Oct 28.

PMID:
26826406
10.

ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.

Kao HJ, Cheng CF, Chen YH, Hung SI, Huang CC, Millington D, Kikuchi T, Wu JY, Chen YT.

Hum Mol Genet. 2006 Dec 15;15(24):3569-77. Epub 2006 Nov 20.

PMID:
17116638
11.

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J.

Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23.

12.

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.

Wu JY, Kao HJ, Li SC, Stevens R, Hillman S, Millington D, Chen YT.

J Clin Invest. 2004 Feb;113(3):434-40.

13.

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.

Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S.

J Inherit Metab Dis. 2003;26(1):72-4. No abstract available.

PMID:
12872844
15.

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
16.
17.

Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene.

Fan CY, Pan J, Chu R, Lee D, Kluckman KD, Usuda N, Singh I, Yeldandi AV, Rao MS, Maeda N, Reddy JK.

J Biol Chem. 1996 Oct 4;271(40):24698-710.

18.

Structure of the bovine ACAD8 gene and the association of its polymorphism with the production traits.

Li H, Xu S, Gao X, Ren H.

J Genet Genomics. 2007 Apr;34(4):315-20.

PMID:
17498629
20.

Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse.

Graw J, Jung M, Löster J, Klopp N, Soewarto D, Fella C, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M.

Genomics. 1999 Nov 15;62(1):67-73.

PMID:
10585769

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