Inherited Metabolic Diseases, Georg F. Hoffmann; Johannes Zschocke; William L. N

Автор: Elliott Perry, Lambiase Pier D., Kumar Dhavendr
Название: Inherited Cardiac Disease
ISBN: 0199559686 ISBN-13(EAN): 9780199559688
Издательство: Oxford Academ
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Описание: Containing summaries of inherited cardiovascular disorders with a focus on aetiology, presentation and management, this handbook covers the fundamentals of molecular biology and genetic testing, and the detailed clinical information relevant to patient management.

Автор: Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (Eds.)
Название: Inherited Metabolic Diseases: a clinical Approach.
ISBN: 3540747222 ISBN-13(EAN): 9783540747222
Издательство: Springer
Цена: 107130.00 T
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Автор: Phillip L. Pearl
Название: Inherited Metabolic Epilepsies
ISBN: 0826168639 ISBN-13(EAN): 9780826168634
Издательство: Mare Nostrum (Eurospan)
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Описание: From the tenth to sixteenth centuries, landed estates served as sites of de facto government, trade network nodes, developing agricultural technology, and centres of religious practice in Japan. This volume examines the system from three perspectives: the land itself; the power derived from and exerted over the land; and the religious institutions and individuals involved in landholding practices.

Автор: Pearl
Название: Inherited Metabolic Epilepsies
ISBN: 1936287250 ISBN-13(EAN): 9781936287253
Издательство: Marston Book Services
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Описание: There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of inherited metabolic epilepsies and related disorders.

Автор: D.N. Raine
Название: Medico-Social Management of Inherited Metabolic Disease
ISBN: 9401161755 ISBN-13(EAN): 9789401161756
Издательство: Springer
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Описание: The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life.

Автор: R. Angus Harkness; F. Cockburn
Название: The Cultured Cell and Inherited Metabolic Disease
ISBN: 9401166293 ISBN-13(EAN): 9789401166294
Издательство: Springer
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Описание: The use of cultured cells in the clinical diagnosis of hereditary metabolic dis ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge.

Автор: R.J. Pollitt; R. Angus Harkness; G.M. Addison
Название: Studies in Inherited Metabolic Disease
ISBN: 9401070598 ISBN-13(EAN): 9789401070591
Издательство: Springer
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Описание: captured for the published proceedings. Nevertheless, the two Supplements to this Journal (also available together as a hard-backed book) do, over the years, embrace many of the major aspects of the study of inborn errors of metabolism and can, particularly with the Short Communications section, be used as a way into the literature on specific new topics. We hope that with judicious selection of material these supplements will continue to provide, as did the Society's earlier annual publications, a balanced record of the present state of the subject in all its facets, a record of interest to those working in allied fields as well as to the specialist. R. J. Pollitt G. M. Addison R. A. Harkness The papers listed below were also presented at the meeting. Scripts were not available by the time of publication. 1. Tangier disease and related disorders of apolipoprotein Al. G. Assmann, Munster. 2. Contribution to Ethics Symposium by M. E. Pembrey, London.

Автор: G.M. Addison; R. Angus Harkness; D.M Isherwood; R.
Название: Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia
ISBN: 9401083320 ISBN-13(EAN): 9789401083324
Издательство: Springer
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Описание: The five case studies from Belize, Mauritania, Samoa, Philippines and Japan were prepared as part of a set of 16 studies gathering national experiences from around the world. The studies are intended to ground the FAO `Technical Guidelines on Marine Protected Areas (MPAs)` and `Fisheries` in practical experience and to inform the use of MPAs globally.

Автор: Carmen Espin?s; Vicente Felipo; Francesc Palau
Название: Inherited Neuromuscular Diseases
ISBN: 940073056X ISBN-13(EAN): 9789400730564
Издательство: Springer
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Цена: 191550.00 T
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Описание: This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.

Автор: G.M. Addison; K. Bartlett; R. Angus Harkness; R.J.
Название: Inherited Disorders of Vitamins and Cofactors
ISBN: 9401180210 ISBN-13(EAN): 9789401180214
Издательство: Springer
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Описание: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle Upon Tyne, September 1984

Автор: Joe T. R. Clarke
Название: A Clinical Guide to Inherited Metabolic Diseases
ISBN: 0521614996 ISBN-13(EAN): 9780521614993
Издательство: Cambridge Academ
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Описание: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. To help make the correct diagnosis, the book is organized according to the clinical symptoms presenting in these patients. This new edition includes much new and up-dated material.

Автор: Nyhan
Название: Atlas Inherited Metabolic Disease 4
ISBN: 1138196592 ISBN-13(EAN): 9781138196599
Издательство: Taylor&Francis
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Описание: 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.