Inborn errors of metabolism
著者
書誌事項
Inborn errors of metabolism
（Nestlé Nutrition workshop series, v. 24）
Raven Press, c1991
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注記
Based on papers presented at the 24th Nestlé Nutrition workshop held in Brussels, Belgium Sept. 24-28, 1989
Includes bibliographical references
Includes index
内容説明・目次
内容説明
This addresses one of the major challenges of medicine: the diagnosis, treatment and prevention of inherited metabolic diseases. Experts in clinical practice and research provide an overview of all aspects of these genetic disorders, elucidating the underlying mechanisms and highlighting progress in antenatal diagnosis and therapy, genetic counseling, dietetic and drug therapy, and surgical treatment by cell and organ transplantation. The contributors review our knowledge of diseases of fatty acid oxidation, examine the relation between these diseases amd the sudden infant death syndrome and present findings on amino acid, ammonia and neurotransmitter diseases and disorders of carbohydrate metabolism. Attention is given to the problems of preventing fetal damage in pregnant women with phenylketonuria and improving the results of dietetic therapy for galactosemia. Specialists detail the indications for liver transplantation and explain how displacement bone marrow transplantation can correct some inborn errors of metabolism. The book concludes with a report on new approaches to human gene therapy.
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