Advances in Human Genetics 6
Springer-Verlag New York Inc.
978-1-4615-8266-3 (ISBN)
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.
| Reihe/Serie | Advances in Human Genetics ; 6 |
|---|---|
| Zusatzinfo | XV, 382 p. |
| Verlagsort | New York, NY |
| Sprache | englisch |
| Maße | 152 x 229 mm |
| Themenwelt | Sachbuch/Ratgeber ► Natur / Technik ► Garten |
| Sachbuch/Ratgeber ► Natur / Technik ► Naturführer | |
| Medizin / Pharmazie ► Medizinische Fachgebiete | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| ISBN-10 | 1-4615-8266-0 / 1461582660 |
| ISBN-13 | 978-1-4615-8266-3 / 9781461582663 |
| Zustand | Neuware |
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