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

Contributor(s):

Resource type: Ressourcentyp: Buch (Online)Book (Online)Language: English Series: Springer eBooks Biomedical and Life Sciences | Springer eBook CollectionPublisher: Singapore : Springer, 2019Description: 1 Online-Ressource (XI, 349 p. 167 illus., 113 illus. in color)ISBN:

9789811329777

Subject(s):

Additional physical formats: 9789811329760 | Erscheint auch als: 978-981-13-2976-0 Druck-AusgabeLOC classification:

QP34-38

NLM classification:

WL 348

DOI: DOI: 10.1007/978-981-13-2977-7Online resources:

Summary: Part 1 Metabolic Disorders. Citrin deficiency” -- Homocystinuria No Acquaintance -- Phenylketonuria -- Urea cycle disorders (such as defects of OTCD)” -- Wilson disease -- Diabetes Mellitus type I -- Lipid storage disorder, namely Niemann-Pick C1 disease -- Gaucher disease -- Fabry disease -- Mitochondrial disease (such as defects of MELAS) -- Heme oxygenase deficiency -- Collagen metabolism (such as OI) -- Organic acid metabolism disorders -- Part 2 Genetic Disorders. Glucose 6-Phosphate Dehydrogenase Deficiency -- Familial Hypercholesterolemia -- Fukuyama muscular dystrophy -- Hemoglobin -- Huntington disease -- Anti-coagulant deficiency -- Auto-inflammatory disorders -- Cancer -- Marfan syndrome -- Human immunodeficiency virus infection -- Hepatitis virus C -- Cytomegalovirus infection (especially congenital infection) -- AddictionSummary: 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 comprehensionPPN: PPN: 1666748560Package identifier: Produktsigel: ZDB-2-SBL | ZDB-2-SEB | ZDB-2-SXB

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