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Human pathobiochemistry = from clini...

Oohashi, Toshitaka.

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Human pathobiochemistry = from clinical studies to molecular mechanisms /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Human pathobiochemistry/ edited by Toshitaka Oohashi ... [et al.].
Reminder of title:	from clinical studies to molecular mechanisms /
other author:	Oohashi, Toshitaka.
Published:	Singapore :Springer Singapore : : 2019.,
Description:	xi, 349 p. :ill. (some col.), digital ;24 cm.
[NT 15003449]:	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.
Contained By:	Springer eBooks
Subject:	Clinical biochemistry. -
Online resource:	https://doi.org/10.1007/978-981-13-2977-7
ISBN:	9789811329777

Human pathobiochemistry = from clinical studies to molecular mechanisms /
Human pathobiochemistryfrom clinical studies to molecular mechanisms /[electronic resource] :edited by Toshitaka Oohashi ... [et al.]. - Singapore :Springer Singapore :2019. - xi, 349 p. :ill. (some col.), digital ;24 cm.

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.

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.

ISBN: 9789811329777

Standard No.: 10.1007/978-981-13-2977-7doiSubjects--Topical Terms:

533126
Clinical biochemistry.

LC Class. No.: RB112.5

Dewey Class. No.: 612.015

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505 0 $a 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.
520 $a 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.
650 0 $a Clinical biochemistry. $3 533126
650 1 4 $a Human Physiology. $3 894102
650 2 4 $a Medical Biochemistry. $3 892387
650 2 4 $a Biochemistry, general. $3 890840
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