Advances in human genetics. Volume 6. /.
Harry Harris.
Bok Engelsk 1976 · Electronic books.
| Omfang | 1 online resource (396 p.)
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| Utgave | 1st ed. 1976.
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| Opplysninger | Description based upon print version of record.. - 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.. - 1 Vitamin-Responsive Inherited Metabolic Disorders.- Vitamin Deficiency: Historical Perspective.- Vitamin Responsiveness or Dependency.- Genetic Control of Vitamin Metabolism.- Biochemical Role of Vitamins.- Effect of Mutation on Vitamin Function: Theoretical Possibilities.- Defects of Vitamin Transport and Coenzyme Synthesis.- Cobalamin (Vitamin B12).- Folic Acid.- Calciferol (Vitamin D).- Defects of Coenzyme-Dependent Apoenzymes.- Pyridoxine (Vitamin B6).- Biotin.- Thiamine (Vitamin B1).- Genetic Heterogeneity.- Clinical Panorama.- Mendelian Inheritance.- Prenatal Detection and Treatment.- P
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| Emner | |
| Sjanger | |
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| ISBN | 1-4615-8264-4
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