Human Pathobiochemistry From Clinical Studies to Molecular Mechanisms /

Human Pathobiochemistry From Clinical Studies to Molecular Mechanisms /

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 oth...

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Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Oohashi, Toshitaka (Editor, http://id.loc.gov/vocabulary/relators/edt), Tsukahara, Hirokazu (Editor, http://id.loc.gov/vocabulary/relators/edt), Ramirez, Francesco (Editor, http://id.loc.gov/vocabulary/relators/edt), Barber, Chad L. (Editor, http://id.loc.gov/vocabulary/relators/edt), Otsuka, Fumio (Editor, http://id.loc.gov/vocabulary/relators/edt)
Format: Electronic eBook
Language:English
Published: Singapore : Springer Singapore : Imprint: Springer, 2019.
Edition:1st ed. 2019.
Subjects:
Human physiology.
Medical biochemistry.
Biochemistry.
Human Physiology.
Medical Biochemistry.
Biochemistry, general.
Online Access:Full Text via HEAL-Link
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.

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