The Metabolic & Molecular Bases of Inherited Disease PDF Download
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Author:
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ISBN:
Category : Genetic disorders
Languages : en
Pages : 1306
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Book Description
Author:
Publisher:
ISBN:
Category : Genetic disorders
Languages : en
Pages : 1306
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Book Description
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338
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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Charles R. Scriver
Publisher:
ISBN: 9780079098269
Category : Medical genetics
Languages : en
Pages : 4605
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Book Description
Author: Charles R. Scriver
Publisher:
ISBN: 9780070607286
Category : Genetic disorders
Languages : en
Pages : 1666
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Book Description
Author: C R. SCRIVER
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author:
Publisher:
ISBN: 9780071188357
Category :
Languages : en
Pages : 1868
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Book Description
Author:
Publisher:
ISBN:
Category : Medical genetics
Languages : en
Pages : 6478
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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Charles R. Scriver
Publisher:
ISBN: 9780071136891
Category : Medical genetics
Languages : en
Pages : 4698
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Book Description
This text provides an authoritative presentation of the origin and pathogenesis of inherited metabolic disease. It has been updated and expanded to incorporate new information in the field of molecular biology - one of the most rapidly developing areas in medicine. Each chapter contains sections on both biochemical and molecular mechanisms, as well as clinical diagnostic and management approaches, and a summary.
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ISBN: 9780071188364
Category :
Languages : en
Pages : 1098
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Book Description
Author: E. Gilbert-Barness
Publisher: IOS Press
ISBN: 1614997187
Category : MEDICAL
Languages : en
Pages : 960
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Book Description
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.