Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 121

Similar articles for PubMed (Select 22046030)

1.

Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease.

Friedrich T, Lambert AM, Masino MA, Downes GB.

Dis Model Mech. 2012 Mar;5(2):248-58. doi: 10.1242/dmm.008383. Epub 2011 Nov 1.

2.

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L.

Mol Genet Metab. 2010 Aug;100(4):324-32. doi: 10.1016/j.ymgme.2010.04.017. Epub 2010 May 31.

PMID:
20570198
3.

Production and characterization of murine models of classic and intermediate maple syrup urine disease.

Homanics GE, Skvorak K, Ferguson C, Watkins S, Paul HS.

BMC Med Genet. 2006 Mar 31;7:33.

6.

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.

J Hum Genet. 1998;43(2):91-100.

PMID:
9621512
7.

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.

8.

Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

Park HD, Lee DH, Hong YH, Kang DH, Lee YK, Song J, Lee SY, Kim JW, Ki CS, Lee YW.

Ann Clin Lab Sci. 2011 Spring;41(2):167-73.

PMID:
21844576
10.

Lessons from genetic disorders of branched-chain amino acid metabolism.

Chuang DT, Chuang JL, Wynn RM.

J Nutr. 2006 Jan;136(1 Suppl):243S-9S. Review.

12.

Maple syrup urine disease: new insights from a zebrafish model.

Roberts NB.

Dis Model Mech. 2012 Jul;5(4):417-8. doi: 10.1242/dmm.010272. No abstract available.

13.

Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.

Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW.

Adv Enzyme Regul. 1990;30:245-63.

PMID:
2403034
15.

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT.

Biochem Biophys Res Commun. 1991 Jan 31;174(2):804-9.

PMID:
1847055
16.

Disruption of Eaat2b, a glutamate transporter, results in abnormal motor behaviors in developing zebrafish.

McKeown KA, Moreno R, Hall VL, Ribera AB, Downes GB.

Dev Biol. 2012 Feb 15;362(2):162-71. doi: 10.1016/j.ydbio.2011.11.001. Epub 2011 Nov 6.

18.

Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.

Silao CL, Padilla CD, Matsuo M.

Pediatr Int. 2008 Jun;50(3):312-4. doi: 10.1111/j.1442-200X.2008.02610.x.

PMID:
18533943
19.

[Gene analysis of maple syrup urine disease (MSUD)].

Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I.

Rinsho Byori. 1993 May;41(5):484-91. Review. Japanese.

PMID:
8350511
20.

DNA damage in an animal model of maple syrup urine disease.

Scaini G, Jeremias IC, Morais MO, Borges GD, Munhoz BP, Leffa DD, Andrade VM, Schuck PF, Ferreira GC, Streck EL.

Mol Genet Metab. 2012 Jun;106(2):169-74. doi: 10.1016/j.ymgme.2012.04.009. Epub 2012 Apr 20.

PMID:
22560665
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk