Clinical Studies in Medical Biochemistry
Robert H. Glew, Miriam D. Rosenthal
Oxford University Press, Aug 24, 2006 - Medical - 392 pages
This text uses a case-study approach to present core principles of biochemistry and molecular biology in the context of human disease. The thirty-three cases have been carefully chosen to cover key concepts and common diseases. Each chapter provides a specific patient report that includes relevant history, pertinent clinical laboratory data, physical findings, and subsequent diagnosis. This is followed by a comprehensive discussion of normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. In this third edition of the book, a new co-editor has aided in the substantially revised and more targeted selection of cases. The whole volume is now clearly focused on intermediary metabolism and other topics central to biochemistry. There are new chapters on topics such as collagen structure, mitochondrial metabolism, and hyperhomocysteinemia and vascular disease. There is also more coverage of nutritional biochemistry, including new chapters on protein-calorie malnutrition, obesity, vitamin A deficiency, and iron metabolism. The best cases were retained from the previous edition, and have been completely rewritten and updated to include recent advances in diagnostic biochemistry and the status of current therapies. Although the first edition was intended primarily for medical students, through the years the book has proven useful for a wide variety of students interested in the health science professions.
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ABCA1 abnormal acidosis activity allele amino acid anemia apoB assay associated B12 deficiency bilirubin biochemical biotin biotinidase biotinidase deficiency blood bone calcium carboxylase cardiac troponin carnitine cause child cholesterol chronic ciency CK-MB clinical collagen complex concentration creased cTnI decreased defects dehydrogenase diabetes diagnosis diet dietary disorder enzyme excretion fatty acids fetal fibroblasts Figure fragile X syndrome function G6PD Gaucher disease gene genetic glucocerebrosidase gluconeogenesis glucose hemoglobin hemolysis hepatic homocysteine hormone hypoglycemia I-cell disease increased infant infection insulin intake intestinal iron lactose LDL receptor levels lipid lipoprotein liver lysosomal lysosomal enzymes MELAS membrane metabolic methionine mg/dL mitochondrial mmol/L molecular molecules muscle mutations neonatal neurological normal occurs oxidation oxygen pancreatic pathway patients phenotype plasma production protein pyruvate reaction red cell residues serum sickle cell disease substrate symptoms synthesis therapy tients tion tissues transport treatment urine vitamin B12 vitamin D