Atlas of Inherited Metabolic Diseases

ISBN-13: 9781138196599 / Angielski / Twarda / 2020 / 872 str.

William L. Nyhan; Georg F. Hoffman; Bruce A. Barshop

Opis

The fourth edition of this highly regarded book, authored by some of the foremost authorities in pediatric metabolic medicine, provides an invaluable insight into the problems associated with metabolic diseases. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

Spis treści

Part 1: Organic Acidemias. Part 2: Disorders of Amino Acid Metabolism. Part 3: Hyperammonemia and Disorders of the Urea Cycle. Part4: Disorders of Fatty Acid Oxidation.Part5: The Lactic Acidemias and Mitochondrial Disease. Part 6: Disorders of Carbohydrate Metabolism. Part 7: Peroxisomal Disorders. Part 8: Disorders Of Purine And Pyridine Metabolism. Part 9: Mucopolysaccharidoses. Part 10: Mucolipidosis. Part 11: Disorders Of Cholesterol And Neutral Lipid Metabolism. Part 12: Lipid Storage Disorders. Part 13: Miscellaneous.