Biochemical Genetics

Biochemical Genetics : A Laboratory Manual

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Description

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.show more

Product details

  • Paperback | 154 pages
  • 166.6 x 245.1 x 16.5mm | 338.4g
  • Oxford University Press Inc
  • New York, United States
  • English
  • 0195051351
  • 9780195051353

About Emmanuel Shapira

Emmanuel Shapira, M.D., Ph.D., is Director of The Human Genetics Program at the Hayward Genetics Center, Tulane University Medical Center. Miriam G. Blitzer is Assistant Professor of Pediatrics and ObGyn, University of Maryland. James B. Miller is a Graduate Student in Biochemical Genetics at Tulane University School of Medicine. Diane K. Africk is a Fellow in the Human Genetics Program, Tulane University School of Medicine.show more

Table of contents

ENZYME ASSAYS: General procedures and buffers; Fluorometric assays; Spectrophotometric assays; Radioisotope assays; DIAGNOSTIC TESTS FOR METABOLIC DISORDERS SPECIMEN COLLECTION AND HANDLING: Urine spot tests;Thin layer chromatography (TLC); Quantative amino acid analysis; Organic acid analysis by gas chromatography; Determination of free and esterified carnitine; Appendixshow more