This manual describes laboratory methodology for diagnosing inborn errors of metabolism. Each chapter is sufficiently detailed so as to be self-contained, thus enabling any individual to adopt the method in their own laboratory and obviating the need for additional methods of references. The book is unique in that it is the first of its kind to be published in the last 15 years, and individual chapters have been developed by experts in the field citing both established and 'cutting-edge' technology. Thus, it is sufficiently up-to-date to be applicable to the field of inborn errors of metabolism for all readers and those interested in laboratory diagnosis.Instrumentation 1. HPLC pump 1525 (Waters). 2. Fluorescence detector 2475 ( Waters). 3. In-line degasser (Waters). 4. Column oven (Waters). 5. Waters Fraction Collector III (Waters). 6. HPLC column (GlycoSepN: 4.6 A 250 mM, normalanbsp;...
|Title||:||Laboratory Guide to the Methods in Biochemical Genetics|
|Author||:||Nenad Blau, Marinus Duran, K. Michael Gibson|
|Publisher||:||Springer Science & Business Media - 2008-05-31|