Electronic Resource
Springer
Journal of inherited metabolic disease
2 (1980), S. 89-92
ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A new case of α-aminoadipic aciduria had an apparent immunodeficiency and died at the age of 4 months. The urine contained large amounts of α-aminoadipate and smaller quantities of α-keto- and α-hydroxyadipate.Post mortem, the highest concentrations of α-aminoadipate were found in liver and kidney. Enzymatic studies on liver and cultured fibroblasts failed to demonstrate the expected deficiency of α-aminoadipate aminotransferase, a result perhaps explicable by the presence of cytoplasmic aminotransferase activity.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01805664
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