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Inborn metabolic diseases diagnosis and treatment

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Published by Springer-Verlag in Berlin, New York .
Written in English

Subjects:

  • Metabolism, Inborn errors of.,
  • Metabolism, Inborn Errors -- diagnosis.,
  • Metabolism, Inborn Errors -- therapy.

Book details:

Edition Notes

Includes bibliographical references and index.

StatementJ. Fernandes, J.-M. Saudubray, K. Tada (eds.) ; with a foreword by C.R. Scriver.
ContributionsFernandes, J. 1921-, Saudubray, J. M. 1937-, Tada, K. 1930-
Classifications
LC ClassificationsRC627.8 .I544 1990
The Physical Object
Paginationxxi, 730 p. :
Number of Pages730
ID Numbers
Open LibraryOL2204386M
ISBN 103540509518, 0387509518
LC Control Number89026241

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Inborn Metabolic Diseases: Diagnosis and Treatment gives an excellent and most up to date overview and deep insight on a rapidly evolving specialty with a steadily growing number of patients, most of them now growing-up and reaching adulthood, and is, therefore, informative for experts as well as for those who seek to become one.” (Ulrike. Inborn Metabolic Diseases, Diagnosis and Treatment written by Saudubray, van den Berghe and Walter is a page book. Internationally recognized experts on their subjects contributed to the 5th edition. The content of the book is: Diagnosis and Treatment: General Principles Disorders of Carbohydrate Metabolism/5(6). John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester. Keywords Disorders of metabolism Inborn errors of metabolism Inherited metabolic diseases Metabolic diseases Neonatal Screening Newborn Screening. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure.

Buy Inborn Metabolic Diseases: Diagnosis and Treatment 6th ed. by Saudubray, Jean-Marie, Baumgartner, Matthias R., Walter, John H. (ISBN: ) from Amazon's Book Store. Everyday low prices and free delivery on eligible orders/5(5). The text “Inborn Metabolic Diseases (5th edition)”, edited by Saudubray, Van den Bergh, and Walter is one of several survey volumes available to metabolic physicians. The latest edition has numerous incremental and several major improvements including a greater focus on inborn errors of metabolism in by: 2. Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. Inborn Metabolic Diseases. Three inborn errors are known in Join ResearchGate to discover and stay up-to-date with the latest research from leading .

Congenital diseases, especially congenital metabolic diseases, will be presented in depth in “Inborn Metabolic Diseases 6th Edition”. It contains knowledge from basic to intensive in this area: diagnosis and treatment. This is an essential book – Inborn Metabolic Diseases – for researchers in genetics, genetic biochemistry and [ ].   As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The recent application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has. Its scope, like the field of inborn errors of metabolism, has continued to grow. At the same time, the book has remained true to its original objective of providing a systematic and practical approach to the diagnosis of metabolic disease. Revisions have brought the book up to date.