| Autor: |
Coude MM; Laboratoire de Biochimie Médicale B, Hôpital Necker Enfants Malades, Paris, France., Charpentier C, Bonnefont JP, Cheron G, Kamoun P |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of inherited metabolic disease [J Inherit Metab Dis] 1991; Vol. 14 (5), pp. 668-73. |
| DOI: |
10.1007/BF01799931 |
| Abstrakt: |
Organic acids have been determined in aqueous humour and plasma by gas chromatography-mass spectrometry in 38 cases of infant death and 4 cases of inherited metabolic disease: one had a complex fatty-acid oxidation disorder with a large urinary excretion of adipic acid, the others had a disorder of propionate catabolism with a large urinary excretion of methylmalonic acid. In each case we found in aqueous humour the abnormal metabolite present in urine. Thus aqueous humour could be a suitable material for retrospective diagnosis of inherited metabolic diseases at autopsy in sudden infant death syndrome. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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