Advances in Human Genetics 6
| Main Author: | |
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| Format: | eBook |
| Language: | English |
| Published: |
New York, NY
Springer US
1976, 1976
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| Edition: | 1st ed. 1976 |
| Series: | Advances in Human Genetics
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| Subjects: | |
| Online Access: | |
| Collection: | Springer Book Archives -2004 - Collection details see MPG.ReNa |
Table of Contents:
- 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