Human Pathobiochemistry : From Clinical Studies to Molecular Mechanisms / edited by Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka.

Format:

Book

Contributor:

Oohashi, Toshitaka, editor.

Tsukahara, Hirokazu, editor.

Ramirez, Francesco, editor.

Barber, Chad L., editor.

Otsuka, Fumio (Of Okayama University), editor.

SpringerLink (Online service)

Series:

Biomedical and Life Sciences (Springer-11642)

Language:

English

Subjects (All):

Human physiology.

Biochemistry.

Human Physiology.

Medical Biochemistry.

Biochemistry, general.

Local Subjects:

Human Physiology.

Medical Biochemistry.

Biochemistry, general.

Physical Description:

1 online resource (XI, 349 pages) : 167 illustrations, 113 illustrations in color

Edition:

First edition 2019.

Contained In:

Springer eBooks

Place of Publication:

Singapore : Springer Singapore : Imprint: Springer, 2019.

System Details:

text file PDF

Summary:

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.

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.

Other Format:

Printed edition:

ISBN:

978-981-13-2977-7

9789811329777

Access Restriction:

Restricted for use by site license.