2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1186/1752-1947-1-98/fulltext.html
Reference15 articles.
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2. 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: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000, 47: 830-833. 10.1203/00006450-200006000-00025.
3. Rozen R, Vockley J, Zhou L, Milos R, Willard J, Fu K, Vicanek C, Low-Nang L, Torban E, Fournier B: Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. Genomics. 1994, 24: 280-287. 10.1006/geno.1994.1617.
4. Korman SH: Inborn errors of isoleucine degradation: a review. Mol Genet Metab. 2006, 89: 289-299. 10.1016/j.ymgme.2006.07.010.
5. 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: Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet. 2006, 118: 680-690. 10.1007/s00439-005-0070-4.
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