Human Pathobiochemistry

1. Front Matter

   Pages i-xi

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2. Metabolic Disorders

   1. Front Matter

      Pages 1-1

      PDF

   2. Citrin Deficiency

      • Yuan-Zong Song, Masahide Yazaki, Takeyori Saheki

      Pages 3-14

   3. Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)

      • Jörn Oliver Sass, Ina Knerr

      Pages 15-21

   4. Prominent Insulin Resistance in Congenital Generalized Lipoatrophy

      • Jun Wada, Yashpal S. Kanwar

      Pages 23-31

   5. Fabry Disease

      • Ken Sakurai, Toya Ohashi

      Pages 33-41

   6. Familial Hypercholesterolemia

      • Masa-aki Kawashiri, Daniel J. Rader

      Pages 43-56

   7. Gaucher Disease

      • Hiroyuki Ida

      Pages 57-65

   8. Heme Oxygenase-1 Deficiency

      • Akihiro Yachie

      Pages 67-79

   9. The Homocystinurias

      • John H. Walter, Henk J. Blom

      Pages 81-90

   10. Hypophosphatasia

       • Takeshi Taketani, Chigusa Oyama, Yasuaki Oda, Lynne Murphy

       Pages 91-100

   11. Phenylketonuria

       • Ikue Hata, Miori Yuasa, Yuko Isozaki

       Pages 101-110

   12. Triglyceride Deposit Cardiomyovasculopathy

       • Ken-ichi Hirano, Ming Li, Yoshihiko Ikeda

       Pages 111-119

   13. Urea Cycle Disorders

       • Kimitoshi Nakamura, Jun Kido, Shirou Matsumoto

       Pages 121-132

   14. Wilson Disease

       • Norikazu Shimizu, Tsugutoshi Aoki

       Pages 133-141

3. Genetics

   1. Front Matter

      Pages 143-143

      PDF

   2. Achondroplasia

      • Kosei Hasegawa, Hiroyuki Tanaka, Yoshiki Seino

      Pages 145-154

   3. Acute Myeloid Leukemia: Mutations Blocking Differentiation Lead to Distinct Leukemic Subtypes

      • Amy L. Cummings, Darren Pan, Gary J. Schiller

      Pages 155-168

   4. α1-Antitrypsin Deficiency

      • Nobuaki Miyahara, Kuniaki Seyama, Erwin W. Gelfand

      Pages 169-177

   5. Hereditary Anticoagulant Deficiencies

      • Masataka Ishimura, Shouichi Ohga

      Pages 179-188

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.

• Molecular mechanisms of disease
• Metabolic Disorders
• Genetic Disorders
• Immunology
• Cancer

“The book's emphasis is on its role and importance in ‘bench‐to‐bedside’ training of healthcare professionals with the hope that this approach will have wide appeal in many disciplines related to pathobiochemistry. … This unique book combines biochemistry with molecular biology and presents various disorders in a case study format. This is indeed a unique strategy to present complex information. I am quite confident that medical students, researchers, clinicians and other healthcare professionals will find this book very useful.” (Omer Iqbal, Doody's Book Reviews, 27 September, 2019)

• Department of Molecular Biology and Biochemistry, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan

  Toshitaka Oohashi

• Department of Pediatrics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan

  Hirokazu Tsukahara

• Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, USA

  Francesco Ramirez

• Department of Biology College of Arts and Sciences, California Lutheran University, Thousand Oaks, USA

  Chad L. Barber

• Department of General Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan

  Fumio Otsuka

Toshitaka Oohashi, Ph.D., Professor of Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan


Hirokazu Tsukahara, M.D., Ph.D., Professor of Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan


Francesco Ramirez, Ph.D., Professor of Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10029, USA


Chad Barber, Ph.D., Assistant Professor of Biology: California Lutheran University, Thousand Oaks, CA 91360, USA


Fumio Otsuka, M.D., Ph.D., Professor of Department of General Medicine, Okayama University Graduate School of Medicine,
Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan

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