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: Laboratory Guide to the Methods in Biochemical Genetics
  name:
    name part: Blau, Nenad.
    role:
      role term: editor.
  name:
    name part: Duran, Marinius.
    role:
      role term: editor.
  name:
    name part: Gibson, K. Michael.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: gw
    date issued: 2008
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XXVI, 860 p. online resource.
  table of contents: Laboratory Strategies in Biochemical Genetics -- Quality Control and Quality Assurance in the Biochemical Genetic Laboratory -- Simple Metabolic Screening Tests -- Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate -- Amino Acids -- Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine -- GABA, Homocarnosine, and ?-Alanine -- Pipecolic Acid -- Organic Acids -- Acylcarnitines, Including In Vitro Loading Tests -- Plasmalogens and Polyunsaturated Fatty Acids -- Very-Long-Chain Fatty Acids and Phytanic Acid -- Oxalate, Glycolate, Glycerate, Sulfate, and Citrate -- Glycerol and Glycerol Phosphates -- Biotinidase -- Mitochondrial Respiratory Chain -- Mucopolysaccharides -- Oligosaccharides -- Sialic Acid -- Glycosphingolipids -- Congenital Disorders of Glycosylation -- Enzymes and Metabolites of Carbohydrate Metabolism -- Polyols -- Diagnosis of Inherited Defects of Cholesterol Biosynthesis -- Lipoproteins -- Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry -- Bile Acids -- Pterins and Related Enzymes -- Biogenic Amines -- Folates -- Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry -- Creatine and its Metabolites -- Porphyrins, Porphobilinogen, and ?-Aminolevulinic Acid -- Trimethylaminuria -- A Tandem Mass Spectrometry Primer for Metabolite Disease Detection -- Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders.
  note: edited by Nenad Blau, Marinius Duran, K. Michael Gibson.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Laboratory medicine
  subject:
    topic: Metabolic diseases
  subject:
    topic: Pediatrics
  subject:
    topic: Biochemistry
  subject:
    topic: Medicine & Public Health
  subject:
    topic: Metabolic Diseases
  subject:
    topic: Laboratory Medicine
  subject:
    topic: Biochemistry, general
  subject:
    topic: Human Genetics
  subject:
    topic: Pediatrics
  classification: RC627.5-632
  classification: 616.39
  related item:
    title info:
      title: Springer eBooks
  identifier: 9783540766988
  identifier: http://dx.doi.org/10.1007/978-3-540-76698-8
  record info:
    record creation date: 100301
    record change date: 20151204145600.0
    record identifier: 978-3-540-76698-8