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Journal of Inherited Metabolic Disease

, Volume 12, Issue 1, pp 95–96 | Cite as

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

  • M. Coude
  • J. P. Bonnefont
  • C. Charpentier
  • B. Chadefaux
  • J. M. Saudubray
  • P. Kamoun
Case Report

Keywords

Public Health Internal Medicine Metabolic Disease Aqueous Humour Methylmalonic 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Bennett, M. J., Pollitt, R. J., Land, J. M., Turner, M. J. and Cheetham, C. H. Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.J. Inher. Metab. Dis. 10 (1987) 95–96PubMedGoogle Scholar
  2. Chalmers, R. A., Lawson, A. M. and Watts, R. W. E. Studies on the urinary organic acidic metabolites excreted by patients with β-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas liquid chromatography and mass spectrometry.Clin. Chim. Acta 52 (1974) 43–51PubMedGoogle Scholar
  3. Willard, H. F., Ambani, L. M., Hart, A. C., Mahoney, M. J. and Rosenberg, L. E. Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells.Hum. Genet. 34 (1976) 277–283PubMedGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • M. Coude
    • 1
  • J. P. Bonnefont
    • 2
  • C. Charpentier
    • 1
  • B. Chadefaux
    • 1
  • J. M. Saudubray
    • 2
  • P. Kamoun
    • 1
  1. 1.Laboratorie de Biochimie Médicale B (Pr. P. Kamoun)Hôpital Necker Enfants MaladesParis Cedex 15France
  2. 2.Clinique de Génétique Médicale, Département de PédiatrieHôpital Necker Enfants MaladesParis Cedex 15France

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