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140122 ||| eng |
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|a 9781461582649
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| 100 |
1 |
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|a Harris, Harry
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| 245 |
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|a Advances in Human Genetics 6
|h Elektronische Ressource
|c by Harry Harris
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| 250 |
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|a 1st ed. 1976
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| 260 |
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|a New York, NY
|b Springer US
|c 1976, 1976
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| 300 |
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|a XV, 382 p
|b online resource
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| 505 |
0 |
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|a 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
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| 653 |
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|a Medical Genetics
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| 653 |
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|a Medical genetics
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| 041 |
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7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b SBA
|a Springer Book Archives -2004
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| 490 |
0 |
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|a Advances in Human Genetics
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| 028 |
5 |
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|a 10.1007/978-1-4615-8264-9
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| 856 |
4 |
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|u https://doi.org/10.1007/978-1-4615-8264-9?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
0 |
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|a 616.042
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