Aspartylglycosaminuria: An inborn error of glycoprotein catabolism
β Scribed by C. P. J. Maury
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 500 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
Clinical and biochemical data are presented on eight children with adenylosuccinase deficiency. This newly discovered inborn error of purine metabolism is characterized by an accumulation in body fluids of succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICA riboside), th
A very unusual pattern of organic acid excretion was established in the urine of two premature newborns with severe respiratory distress and cerebral haemorrhages. By combined gas chromatography/mass spectrometry the following acids were identified: lactic acid, a-hydroxy-butyric acid, fl-hydroxy-bu