Journal of Inherited Metabolic Disease (eBook, PDF)

Redaktion: Green, A.

• Format: PDF

Produktbeschreibung

The articles in Issue 4 of Journal of Inherited Metabolic Disease, Vol. 14 (1991) contain the main lectures presented at the 28th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 1990, which was dedicated to `The Liver and Inherited Metabolic Disease' with a half-day workshop on `Screening and Economics'. The subjects covered include metabolic functions of the liver, bile acids, alpha-1-antitrypsin deficiency, tyrosinaemia type I, Crigler-Najjar disease type I and Niemann-Pick disease type C, providing updates on a wide range of metabolic disorders and illustrating the importance of the complementary contributions from professionals in different disciplines. Also covered in detail is the exciting potential of liver transplantation as treatment for several inborn errors of metabolism. This state-of-the-art review will be of interest to clinicians and research workers alike.

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Produktdetails

• Verlag: Springer Netherlands
• Seitenzahl: 254
• Erscheinungstermin: 29. Juni 2013
• Englisch
• ISBN-13: 9789401197496
• Artikelnr.: 44181203

Inhaltsangabe

The Role of the Liver in Metabolic Homeostasis: Implications for Inborn Errors of Metabolism.- Detoxification Pathways in the Liver.- Hereditary Variation of Liver Enzymes involved with Detoxification and Neurodegenerative Disease.- Interrelationships of Liver and Brain with Special Reference to Reye Syndrome.- Fetal and Neonatal Bile Acid Synthesis and Metabolism - Clinical Implications.- Inborn Errors of Bile Acid Metabolism.- ?1-Antitrypsin Deficiency and Liver Disease: Clinical Presentation, Diagnosis and Treatment.- ? 1-Antitrypsin Deficiency and Liver Disease.- Clinical Presentation of Metabolic Liver Disease.- Investigation of Paediatric Liver Disease.- The Role of Histochemical Investigations in Metabolic Disorders Affecting the Liver.- Techniques for Studying Hepatic Metabolism in vivo.- Tyrosinaemia Type I - an Update.- Investigation of the Molecular Basis of the Genetic Deficiency of UDP-Glucuronosyl-transferase in Crigler-Najjar Syndrome.- Niemann-Pick Disease Type C: An Update.- Paediatric Liver Transplantation: Review of Current Experience.- Treatment of Inherited Metabolic Disorders by Liver Transplantation.- The Place of Fetal Liver Transplantation in the Treatment of Inborn Errors of Metabolism.- Screening and Economics.- Economic Evaluation of Cost-Benefit Ratio of Neonatal Screening Procedure for Phenylketonuria and Hypothyroidism.- Services for Thalassaemia as a Model for Cost-Benefit Analysis of Genetics Services.