| Autor: |
Domkin, V. D., Lazebnik, T. A., Roundeff, A. Yu., Smirnov, M. N. |
| Zdroj: |
Journal of Inherited Metabolic Disease; May 1995, Vol. 18 Issue: 3 p291-294, 4p |
| Abstrakt: |
A convenient and simple method of diagnosing adenylosuccinate lyase (ASL) deficiency is described. This method consists of (1) isolation of SAICA riboside and S-Ado with a cation exchange resin; (2) measurement of the UV absorbance of the ammonia eluate at 270 and 250 nm; (3) calculation of theA270/A250ratio. If the value of this ratio is less than 0.45, the patient has a normal level of ASL activity. If the value of this ratio is greater than 0.70, the patient has ASL deficiency. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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