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: Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism
  name:
    name part: Gresser, Ursula.
  name:
    name part: Abreu, R. A. de.
  name:
    name part: Münchener Adventssymposium on Purine and Pyrimidine Metabolism 1991 : University of Munich)
  type of resource: text
  genre: bibliography
  genre: conference publication
  genre: Congresses.
  origin info:
    place:
      place term: gw
    date issued: 1993
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: print
    extent: xiv, 182 pages : illustrations ; 21 cm.
  table of contents: Purine salvage enzymes -- Hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency -- Introductory remarks -- Clinical aspects of HGPRT deficiency -- Biochemical basis of HGRPT deficiency -- Prenatal diagnosis of lesch-nyhan syndrome -- Genetic basis of HGPRT deficiency -- Adenine phosphoribosyltransferase (APRT) deficiency -- Clinical aspects of APRT deficiency -- Biochemical basis of APRT deficiency -- Genetic basis of APRT deficiency -- Hyperuricemia and gout caused by a defect in renal transport -- Clinical aspects of hyperuricemia and gout -- Biochemical basis of hyperuricemia and gout -- Genetic basis of hyperuricemia and gout -- Immunodeficiency disease : adenosine deaminase (ADA) and purine-nucleoside phosphorylase (PNP) deficiencies -- Introductory remarks
  table of contents: Clinical aspects of ADA and PNP deficiencies -- Biochemical basis and pathophysiology of ADA and PNP deficiencies -- Genetic and metabolic basis of ADA deficiency -- Purine nucleotide cycle -- Myoadenylate (muscle AMP) deaminase deficiency -- Clinical aspects and biochemical basis of AMP deaminase deficiency : a clinician's point of view -- AMP deaminase multigene family in rats and humans -- Genetic basis of myoadenylate deaminase deficiency in man -- Adenylosuccinate lyase (ASase) deficiency -- Clinical aspects of ASase deficiency -- Biochemical aspects of ASase deficiency -- Genetic basis of ASase deficiency -- Pyrimidine metabolism -- Dihydropyrimidinuria presenting in childhood with severe developmental retardation
  table of contents: Clinical aspects of inherited defects in pyrimidine degradation -- Dihydropyrimidine dehydrogenase deficiency : biochemical and genetic basis
  note: U. Gresser (ed.) ; with contributions by R.A. de Abreu [and others].
  note: "This book summarizes the results of the 2nd Munchener Adventssymposium on Purine and Pyrimidine Metabolism, held in December 1991 at the Medizinische Poliklinik of the University of Munich"--P. [vii].
  note: Includes bibliographical references.
  subject:
    topic: Enzymes
    topic: deficiency
    genre: Congresses
  subject:
    topic: Purine-Pyrimidine Metabolism, Inborn Errors
    topic: genetics
  subject:
    topic: Purine-Pyrimidine Metabolism, Inborn Errors
    topic: metabolism
  subject:
    topic: Purine-Pyrimidine Metabolism, Inborn Errors
    topic: physiopathology
  classification: RC632.P87 M65 1993
  classification: 616.3/9
  classification: WD 205.5.P8 M718 1991
  identifier: 3540567747 (alk. paper) :
  identifier: 0387567747 (alk. paper)
  identifier: 93030001
  record info:
    record content source: DNLM/DLC
    record creation date: 930720
    record change date: 20191202143753.0
    record identifier: in00004483966