| 1 | ACADSB, ACADSBD
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| Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
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| Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J.
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| Mol Genet Metab 100(4):333-8. Epub 2010 May 23.PMID: 20547083 2010
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| 2 | ACADSB, ACADSBD
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| 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
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| Sass JO, Ensenauer R, Rschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Hberle J, Andresen BS, Mgarban A, Lehnert W, Zschocke J.
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| Mol Genet Metab 93(1):30-5. Epub 2007 Oct 22. 2008
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| 3 | ACADSB, ACADSBD
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| Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
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| 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.
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| Hum Genet 118(6):680-690. Epub 2005 Nov 30. 2006
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| 4 | ACAD8D, ACADM, ACADSB, ACADSBD, ACAT1, HSD17B10, MCCC1, MCCC2, MHBD
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| Biochemical findings in common inborn errors of metabolism.
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| Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
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| Am J Med Genet C Semin Med Genet 142(2):64-76. Review. 2006
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| 5 | ACADSB, ACADSBD
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| 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
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| 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.
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| Pediatr Res 47(6):830-3. 2000
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