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: Emery and Rimoin's principles and practice of medical genetics and genomics
    part name: Metabolic disorders
  title info:
    title: Metabolic disorders
  title info:
    title: Principles and practice of medical genetics and genomics
  name:
    name part: Pyeritz, Reed E.
    role:
      role term: editor.
  name:
    name part: Korf, Bruce R.
    role:
      role term: editor.
  name:
    name part: Grody, Wayne W.
    role:
      role term: editor.
  name:
    name part: ScienceDirect (Online service)
  type of resource: text
  genre: bibliography
  genre: Electronic books.
  origin info:
    place:
      place term: enk
    date issued: 2021
    copyright date: 2021
    edition: Seventh edition.
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: remote
    extent: 1 online resource (xiii, 737 pages) : illustrations (chiefly color)
  abstract: "In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others"--Publisher's description
  table of contents: Disorders of the body mass -- Genetic lipodystrophies -- Amino acid metabolism -- Disorders of carbohydrate metabolism -- Disorders affecting glycosylation -- Purine and pyrimidine metabolism -- Lipoprotein and lipid metabolism -- Organic acidemias and disorders of fatty acid oxidation -- Vitamin d metabolism or action -- Inherited porphyrias -- Inherited disorders of human copper metabolism -- Iron metabolism and related disorders -- Mucopolysaccharidoses -- Lysosomal storage disorders -- Peroxisomal disorders -- Genetics of mitochondrial respiratory chain disease.
  note: edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
  note: Includes bibliographical references.
  subject:
    topic: Medical genetics
  subject:
    topic: Genetic disorders
  subject:
    topic: Genomics
  subject:
    topic: Genetics, Medical
  subject:
    topic: Genetic Diseases, Inborn
  subject:
    topic: Genomics
  subject:
    topic: Génétique médicale
  subject:
    topic: Maladies génétiques
  subject:
    topic: Génomique
  subject:
    topic: Genomics
  subject:
    topic: Genetic disorders
  subject:
    topic: Medical genetics
  classification: RB155
  classification: 616/.042
  classification: QZ 50
  related item:
    title info:
      title: Emery and Rimoin's principles and practice of medical genetics and genomics
    origin info:
      publisher: London : Elsevier/Academic Press, [2021]
  identifier: 9780128126837
  identifier: 0128126833
  identifier: 9780128125359
  identifier: 0128125357
  identifier: 9780128126837 Ingram Content Group
  identifier: http://proxy.library.tamu.edu/login
  record info:
    record content source: OPELS
    record creation date: 201103
    record change date: 20260327165423.6
    record identifier: in00005767255
    language of cataloging:
      language term: eng