| 1 | ACADSB, ACADSBD
|
| 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 100(4):333-8. Epub 2010 May 23.PMID: 20547083 2010
|
| 2 | ACADSB, ACADSBD
|
| 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
|
| Sass JO, Ensenauer R, Ršschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, HŠberle J, Andresen BS, MŽgarbanŽ A, Lehnert W, Zschocke J.
|
| Mol Genet Metab 93(1):30-5. Epub 2007 Oct 22. 2008
|
| 3 | ACADSB
|
| Association of genetic polymorphisms of ACADSB and COMT with human hypertension.
|
| Kamide K, Kokubo Y, Yang J, Matayoshi T, Inamoto N, Takiuchi S, Horio T, Miwa Y, Yoshii M, Tomoike H, Tanaka C, Banno M, Okuda T, Kawano Y, Miyata T.
|
| J Hypertens 25(1):103-10.PMID: 17143180 2007
|
| 4 | ACADSB, ACADSBD
|
| Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
|
| Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS.
|
| Hum Genet 118(6):680-690. Epub 2005 Nov 30. 2006
|
| 5 | ACAD8D, ACADM, ACADSB, ACADSBD, ACAT1, HSD17B10, MCCC1, MCCC2, MHBD
|
| Biochemical findings in common inborn errors of metabolism.
|
| Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
|
| Am J Med Genet C Semin Med Genet 142(2):64-76. Review. 2006
|
| 6 | ACADSB
|
| Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.
|
| Saenger AK, Nguyen TV, Vockley J, Stankovich MT.
|
| Biochemistry 44(49):16035-42. 2005
|
| 7 | ACADSB, ACADSBD
|
| 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
|
| Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J.
|
| Pediatr Res 47(6):830-3. 2000
|
| 8 | ACAD8, ACAD8D, ACADSB
|
| 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 67(5):1095-103. Epub 2000 Sep 29. 2000
|
| 9 | ACADSB
|
| Localization of short/branched chain Acyl-CoA dehydrogenase (ACADSB) to human chromosome 10.
|
| Arden KC, et al.
|
| Genomics 25 : 743-745. 1995
|
| 10 | ACADSB
|
| Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the Acyl-CoA dehydrogenase gene family.
|
| Rozen R, et al.
|
| Genomics 24 : 280-287. 1994
|