rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Biochemical genetics
  title info:
    sub title: a laboratory manual
  title info: title
  name:
    name part: Emmanuel Shapira
  type of resource: text
  origin info:
    place:
      place term: xx
    place:
      place term: New York
    publisher: Oxford University Press
    date issued: 1989
    date issued: 9999
    issuance: monographic
  language:
    language term: und
  language:
    language term: eng
  physical description:
    form: print
    extent: ix, 145 p.
    extent: ill.
    extent: 24 cm
  abstract: The most comprehensive laboratory manual of its kind, this book summarizes the common assays and laboratory procedures used for the diagnosis of genetic biochemical disorders. Written in cookbook fashion, it provides detailed descriptions of the procedures currently used in the diagnostic work-up of patients with underlying inherited inborn errors of metabolism. General procedures and buffer preparations are discussed. Fluorometric and spectrophotometric assays for lysosomal and non-lysosomal enzymes, radioisotope methods, and tests for metabolic disorders such as qualitative spot tests and thin-layer chromatography 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. Clear and concise, this guidebook is designed to be accessible even to those with limited experience, and will be an invaluable aid for genetics laboratories and medical geneticists
  note: Emmanuel Shapira ... [et al.]
  subject:
    topic: Genetic disorders; Hereditary Diseases; Biochemical genetics; Genetic Technics; Genetics; Biochemical
  classification: 616.39042
  classification: E202
  identifier: 0195051351
  identifier: 9780195051353
  record info:
    record creation date: 210423
    record identifier: TVU_12949