References
- Roe C R, Coates P M. Acyl‐CoA dehydrogenase deficiencies. The metabolic basis of inherited disease6th ed., C R Scriver, A L Beaudet, W S Sly, D Valle. McGraw‐Hill, New York 1989; 889–914
- 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
- Yokota I, Indo Y, Coates P M, Tanaka K. Molecular basis of medium‐chain acyl‐coenzyme A dehydrogenase deficiency: An A to G transition at position 985 that causes a lysine‐304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 1990; 86: 1000–3
- Higuchi R. Rapid, efficient DNA extraction for PCR from cells or blood. Amplifications 1989; 2: 1–3
- Millington D S, Norwood D L, Kodo N, Roe C R, Inoue F. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood and tissue. Anal Biochem 1989; 180: 331–9
- Rinaldo P, O'Shea J J, Coates P M, Hale D E, Stanley C A, Tanaka K. Medium chain acyl‐CoA dehydrogenase deficiency. Diagnosis by stable isotope dilution measurement of urinary n‐hexanoylglycine and 3–phenylpropionylglycine. N Engl J Med 1988; 319: 1308–13
- McCabe E R, Huang S Z, Seltzer W K, Law M L. DNA microextraction from dried blood spots on filter paper blotters: Potential applications to newborn screening. Hum Genet 1987; 75: 213–6
- Bennett M J, Hale D E, Coates P M, Stanley C A. Post mortem recognition of fatty acid oxidation disorders (editorial). Pediatr Pathol 1991; 11: 365–70
- Howat A J, Bennett M J, Variend S, Shaw L, Engel P C. Defects of metabolism of fatty acids in the sudden infant death syndrome. Br Med J 1985; 290: 1771–3
- Bennett M J, Allison F, Pollitt R J, Variend S. Fatty acid oxidation defects as causes of unexpected death in infancy. Prog Clin Biol Res 1990; 321: 349–64
- 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