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: Human Pathobiochemistry
    sub title: From Clinical Studies to Molecular Mechanisms
  name:
    name part: Oohashi, Toshitaka.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: Tsukahara, Hirokazu.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: Ramirez, Francesco.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: Barber, Chad L.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: Otsuka, Fumio.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: si
    date issued: 2019
    edition: 1st ed. 2019.
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XI, 349 p. 167 illus., 113 illus. in color. online resource.
  abstract: This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.
  table of contents: Part1. Metabolic Disorders -- 1. Citrin Deficiency -- 2. Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria) -- 3. Prominent Insulin Resistance in Congenital Generalized Lipoatrophy -- 4. Fabry Disease -- 5. Familial Hypercholesterolemia -- 6. Gaucher Disease -- 7. Heme Oxygenase-1 Deficiency -- 8. The Homocystinurias -- 9. Hypophosphatasia -- 10. Phenylketonuria -- 11. Triglyceride Deposit Cardiomyovasculopathy -- 12. Urea Cycle Disorders -- 13. Wilson Disease -- Part2. Genetics -- 14. Achondroplasia -- 15. Acute Myeloid Leukemia: Mutations Blocking Differentiation Lead to Distinct Leukemic Subtypes -- 16. α1-Antitrypsin Deficiency -- 17. Hereditary Anticoagulant Deficiencies -- 18. Cherubism -- 19. Cancer and Excess Iron -- 20. Fukuyama Congenital Muscular Dystrophy and Related Diseases -- 21. Hereditary Proteinuric Glomerular Disorders -- 22. Marfan Syndrome -- 23. When Materials Are at Fault: The Skeletal Collagens, Osteogenesis Imperfecta and Chondrodysplasias -- Part3. Others -- 24. Acute Kidney Injury: Transition to Chronic Kidney Disease -- 25. Type I Interferonopathies: Common Pathological Features Between Congenital Infections and Genetic Disorders -- 26. Epilepsy -- 27. Hemophagocytic Lymphohistiocytosis -- 28. Hepatitis C Virus Infection -- 29. Substance Abuse Emergencies.
  note: edited by Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka.
  subject:
    topic: Human physiology
  subject:
    topic: Medical biochemistry
  subject:
    topic: Biochemistry
  subject:
    topic: Human Physiology
  subject:
    topic: Medical Biochemistry
  subject:
    topic: Biochemistry, general
  classification: QP34-38
  classification: 612
  related item:
    title info:
      title: Springer eBooks
  identifier: 9789811329777
  identifier: https://doi.org/10.1007/978-981-13-2977-7
  record info:
    record creation date: 190313
    record change date: 20191028081625.0
    record identifier: 978-981-13-2977-7