Описание: This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Автор: G.M. Addison; J.M. Connor; R. Angus Harkness; R.J. Название: Studies in Inherited Metabolic Disease ISBN: 9401069700 ISBN-13(EAN): 9789401069700 Издательство: Springer Рейтинг: Цена: 12157.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene therapy.
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: 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: G.M. Addison; R.A. Chalmers; P. Divry; R. Angus Ha Название: Organic Acidurias ISBN: 9401089752 ISBN-13(EAN): 9789401089753 Издательство: Springer Рейтинг: Цена: 12157.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
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: 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 Рейтинг: Цена: 6986.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle Upon Tyne, September 1984
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: Нет в наличии.
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 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.
Автор: Wayne Damian Название: Metabolic Syndrome: Diagnosis and Treatment ISBN: 1632428482 ISBN-13(EAN): 9781632428486 Издательство: Неизвестно Рейтинг: Цена: 24140.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
Описание: This book covers the design and synthesis of DNA and RNA nanostructures with the aim of using them for drug deliveries, for genetic immunization, for metabolite and nucleic acid detection, gene regulation, and siRNA delivery for cancer treatment.
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