Inherited Disorders of the Thyroid System, Medeiros-Neto, Geraldo , Stanbury, John B.

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: F. Horan; W.J.W. Sharrard; P. Beighton
Название: Orthopaedic Problems in Inherited Skeletal Disorders
ISBN: 1447113284 ISBN-13(EAN): 9781447113287
Издательство: Springer
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Описание: Frank Horan and Peter Beighton have aimed their admirable and concise monograph to help the orthopaedic surgeon-the one individual who is likely to be able to ameliorate the musculo-skeletal problems from which so many of the children and adults with these diseases suffer.

Автор: Nicola Brunetti-Pierri
Название: Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders
ISBN: 3319534556 ISBN-13(EAN): 9783319534558
Издательство: Springer
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Описание: In this book, leading international experts analyze state-of-the-art advances in gene transfer vectors for applications in inherited disorders and also examine the toxicity profiles of these methods.

Автор: Ellis
Название: Inherited Cancer Syndromes
ISBN: 1441968202 ISBN-13(EAN): 9781441968203
Издательство: Springer
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Описание: The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.

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: R. Angus Harkness; J. Jaeken; G.M. Addison; G.T.N.
Название: Inherited Metabolic Diseases and the Brain
ISBN: 0792388372 ISBN-13(EAN): 9780792388371
Издательство: Springer
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Описание: Contains the lectures presented at the 30th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Leuven, Belgium, 1992, which was dedicated to `Inherited Metabolic Diseases and the Brain`. The topics discussed include: inborn errors and brain fluids, neurotransmitter disorders, and inborn errors and demyelination.

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: A. Green
Название: Journal of Inherited Metabolic Disease
ISBN: 0792389824 ISBN-13(EAN): 9780792389828
Издательство: Springer
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Описание: Comprises the main lectures presented at an international symposium on the liver and inherited metabolic disease. Topics covered include metabolic functions of the liver, bile acids, alpha-1-antitrypsin deficiency, tyrosinaeimia type I, Crigler-Najjar disease type I and Niemann-Pick disease type C.

Автор: Carmen Espin?s; Vicente Felipo; Francesc Palau
Название: Inherited Neuromuscular Diseases
ISBN: 940073056X ISBN-13(EAN): 9789400730564
Издательство: Springer
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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.