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45. Central nervous system malformations in ethylmalonic encephalopathy. Nowaczyk MJ; Blaser SI; Clarke JT Am J Med Genet; 1998 Jan; 75(3):292-6. PubMed ID: 9475600 [TBL] [Abstract][Full Text] [Related]
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60. 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 Hum Mol Genet; 1998 Apr; 7(4):619-27. PubMed ID: 9499414 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]