Advances in Human Genetics 6
by Harry Harris
Format: Paperback
ISBN13: 9781461582663
Paperback|9781461582663
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Overview
1 Vitamin-Responsive Inherited Metabolic Disorders.- Vitamin Deficiency: Historical Perspective.- Vitamin Responsiveness or Dependency.- Defects of Vitamin Transport and Coenzyme Synthesis.- Defects of Coenzyme-Dependent Apoenzymes.- Genetic Heterogeneity.- Clinical Panorama.- Mendelian Inheritance.- Prenatal Detection and Treatment.- Problems and Perspectives.- 2 Inherited Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase in X-Linked Uric Aciduria (the Lesch-Nyhan Syndrome and Its Variants).- Clinical Presentation.- Biochemical Characteristics.- Genetic Significance.- Diagnosis of X-Linked Uric Aciduria.- Treatment.- 3 Hereditary Hemolytic Anemia Due to Enzyme Defects of Glycolysis.- Glucose Utilization by the Red Cell.- Effect of Cell Age on Metabolism.- Molecular Genetic Mechanisms of Enzyme Deficiency.- Expression of Enzyme Defects in the Red Cell and Other Tissues.- Hexokinase Deficiency.- Glucosephosphate Isomerase Deficiency.- Phosphofructokinase Deficiency.- Phosphoglycerate Kinase Deficiency.- Pyruvate Kinase Deficiency.- Other Defects of Glycolytic Enzymes in the Red Cells.- 4 Population Structure of the Åland Islands, Finland.- Åland.- 5 Population Genetics and Health Care Delivery: The Quebec Experience.- A Short History of French Canada.- A Consanguinity Study.- An Isolate Study.- An Inbreeding Study.- A Regional Genetic Disease.- A Genetic Care Delivery System.- Summary.
| ISBN-13 | 9781461582663 |
|---|---|
| ISBN-10 | 1461582660 |
| Weight | 1.19 Pounds |
| Dimensions | 5.98 x 0.91 x 9.02 In |
| List Price | $54.99 |
| Edition | 1st Edition |
| Format | Paperback |
|---|---|
| Language | English |
| Pages | xv, 382 pages |
| Publisher | Springer |
| Published On | 2012-01-19 |
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