Abbreviations
- MCAD :
-
medium-chain acyl-CoA dehydrogenase
- SID :
-
sudden infant death
References
Gregersen N, Blakemore AIF, Winter V, et al (1991) Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. Clin Chim Acta 203: 23–34
Gregersen N, Winter V, Curtis D, et al (1993) Medium-chain acyl-CoA dehydrogenase deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. Hum Hered 43: 342–350
Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K (1991) Molecular survey of a prevalent mutation,985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 49: 1280–1291
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Santer, R., Gregersen, N., Tanaka, K. et al. The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany. Eur J Pediatr 154, 497 (1995). https://doi.org/10.1007/BF02029364
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DOI: https://doi.org/10.1007/BF02029364