Advances in Human Genetics 6

Häftad, Engelska, 2012

Av Harry Harris

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Produktinformation

Utgivningsdatum2012-01-19
Mått152 x 229 x 22 mm
Vikt583 g
FormatHäftad
SpråkEngelska
SerieAdvances in Human Genetics
Antal sidor382
FörlagSpringer-Verlag New York Inc.
ISBN9781461582663

Tillhör följande kategorier

Medicinsk genetik inom Medicin

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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