Publisher's Synopsis
Most inborn errors of metabolism present clinically general symptoms that may be compatible with a variety of both genetic and nongenetic disorders. The definitive diagnosis can be made only by using specific biochemical tests.;This comprehensive laboratory manual summarizes the common assays and laboratory procedures used for the diagnosis of genetic biochemical disorders. Fluormetric and spectrophotometric assays for lysosomal and non-lysosomal enzymes, radioisotope methods and tests for metabolic disorders such as qualitative spot tests and thin-layer chromolography are included. For each assay, the authors list the tissues to which it has been applied, control ranges for leukocyte and fibroblast preparations and commercial sources of substrates. This concise guidebook will be of use to genetics laboratories and medical geneticists.
