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Year | Number of Results |
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1990 | 1 |
1998 | 1 |
2001 | 1 |
2010 | 1 |
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2024 | 0 |
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Pediatr Res. 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008.
Pediatr Res. 2001.
PMID: 11134486
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
Naito E, Indo Y, Tanaka K.
Naito E, et al.
J Clin Invest. 1990 May;85(5):1575-82. doi: 10.1172/JCI114607.
J Clin Invest. 1990.
PMID: 1692038
Free PMC article.
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Identification and characterization of new long chain acyl-CoA dehydrogenases.
He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, Van Veldhoven PP, Ensenauer R, Vockley J.
He M, et al.
Mol Genet Metab. 2011 Apr;102(4):418-29. doi: 10.1016/j.ymgme.2010.12.005. Epub 2010 Dec 17.
Mol Genet Metab. 2011.
PMID: 21237683
Free PMC article.
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S.
Gregersen N, et al.
Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619.
Hum Mol Genet. 1998.
PMID: 9499414
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