Inherited Metabolic Diseases and the Brain, R. Angus Harkness; J. Jaeken; G.M. Addison; G.T.N.
Автор: Joe T. R. Clarke Название: A Clinical Guide to Inherited Metabolic Diseases ISBN: 0521614996 ISBN-13(EAN): 9780521614993 Издательство: Cambridge Academ Рейтинг: Цена: 17424.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
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: Fernandes Название: Inborn Metabolic Diseases ISBN: 3540287833 ISBN-13(EAN): 9783540287834 Издательство: Springer Рейтинг: Цена: 21655.00 р. Наличие на складе: Поставка под заказ.
Описание: Emphasises clinical presentation and treatment in acute and chronic situation. This book contains a chapter on Neonatal screening by tandem MS/MS and includes several groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables.
Автор: Jean-Marie Saudubray; Matthias R. Baumgartner; Joh Название: Inborn Metabolic Diseases ISBN: 3662497697 ISBN-13(EAN): 9783662497692 Издательство: Springer Рейтинг: Цена: 25155.00 р. Наличие на складе: Поставка под заказ.
Описание: This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
Описание: "This book must be in a medical library" - "Annals of Internal Medicine", review of prior edition. From the most active, respected clinicians and researchers currently exploring the human genome comes the newest edition of this masterwork on genetic inheritance - with expanded coverage of cancer, and much more. It covers all that is currently known in the field, including the effects of genes, their locations on the chromosomes, and treatment options.
Автор: R.J. Pollitt; R. Angus Harkness; G.M. Addison Название: Studies in Inherited Metabolic Disease ISBN: 9401070598 ISBN-13(EAN): 9789401070591 Издательство: Springer Рейтинг: Цена: 9083.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
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 Рейтинг: Цена: 12157.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
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.
Описание: This is a physician's guide to laboratory methods for diagnosis of metabolic disease - normal valves, abnormal valves, biochemical pathways, clinical features, treatment - presented largely in the form of charts and diagrams. It will help them decide which tests to order and how to interpret them. The work should be of interest to paediatricians, lab scientists and geneticists.
Описание: It is a pleasure to introduce this new book, Clinical and Pathological Aspects of Skin Diseases in Endocrine, Metabolic, Nutritional, and Deposition Disease, edited by two of my friends and respected colleagues, Franco Rongioletti and Bruce R. Smoller. In fact, I was very ent- siastic when I learned that they were preparing this work. Although endocrine, metabolic, w, and deposition diseases are regularly included in general textbooks of dermatology and d- matopathology, one gains the general impression that these topics receive little emphasis and are mainly included for completeness. The prospect of having all of this information in one volume, lovingly described and detailed by experts in the feld, should be of great interest not only to dermatologists, pathologists, and dermatopathologists but also to internists and en- crinologists, who may well gain a different perspective on these disorders. As a derma- pathologist, I am also pleased that this project has been organized and undertaken by two distinguished authorities in cutaneous pathology. This assures a close integration of histo- thology and other laboratory techniques with the clinical aspects of these disorders, which will make it possible – perhaps for the frst time – to view these conditions in a truly comprehensive way. So I invite you, the reader, to open this volume and dig in; be prepared for an eye-catching, intellectually stimulating, and ultimately rewarding experience! Charlottesville, VA James W. Patterson v w Foreword II Dermatopathology is a bridge between Dermatology and Pathology.
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