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Original Article

Medium-Chain Acyl-Coa Dehydrogenase Deficiency: Postmortem Diagnosis in a Case of Sudden Infant Death and Neonatal Diagnosis of an Affected Sibling

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Pages 889-895 | Received 06 Feb 1991, Accepted 24 Apr 1991, Published online: 09 Jul 2009

References

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  • Howat A J, Bennett M J, Variend S, Shaw L. Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome. Br Med J (Clin Res) 1984; 228: 976
  • Roe C R, Millington D S, Maltby D A, Wellman R B. Post mortem recognition of inherited disorders from specific acylcarnitines in tissue in cases of sudden infant death (letter). Lancet 1987; 1: 512
  • Bennett M J, Allison F, Pollitt R J, et al. Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase deficiency in family with sudden infant death (letter). Lancet 1987; 1: 440–1
  • Bennett M J, Coates P M, Hale D E, et al. Analysis of abnormal urinary metabolites in the newborn period in medium‐chain acyl‐CoA dehydrogenase deficiency. J Inherited Metab Dis 1990; 13: 707–15
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  • Roe C R, Millington D S, Maltby D A, Kinnebrew P. Recognition of medium‐chain acyl‐CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye‐like syndrome. J Pediatr 1986; 108: 13–8
  • Bennett M J, Pollitt R J, Land J M, Turner M J, Cheetham G H. Lethal multiple acyl‐CoA dehydrogenation deficiency with dysmorphic features. J Inherited Metab Dis 1987; 10: 95–6
  • Hagenfeldt L, von Dobeln U, Holme E, et al. 3–Hydroxydicarboxylic aciduria—a fatty acid oxidation defect with severe prognosis. J Pediatr 1990; 116: 387–92

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