The Cultured Cell and Inherited Metabolic Disease

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Publisher : Springer Science & Business Media
ISBN 13 : 9401166277
Total Pages : 213 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis The Cultured Cell and Inherited Metabolic Disease by : R. Angus Harkness

Download or read book The Cultured Cell and Inherited Metabolic Disease written by R. Angus Harkness and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. A number of scientists who have in dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica tion was invaluable to those trying to understand and overcome diagnostic problems posed by hereditary metabolic disease. Cell culture methods and cell preservation techniques were described by D. G. Harnden and D. E. Pegg; Dr T. Elsdale outlined some of the factors which control in vitro cell growth and division. Cell culture methods and cryopreser vation techniques have allowed the wide distribution of biochemically abnor mal cells and their study over long periods of time. It is also evident that when a defect which produces severe metabolic disorder in man can be studied in the laboratory using isolated cell cultures a wide variety of investigative procedures can be focused on to the cellular defect without distress or discomfort to the patient or relatives.

The Cultured Cell and Inherited Metabolic Disease

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Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (141 download)

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Book Synopsis The Cultured Cell and Inherited Metabolic Disease by :

Download or read book The Cultured Cell and Inherited Metabolic Disease written by and published by . This book was released on 1977 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Inherited Metabolic Diseases

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Publisher :
ISBN 13 :
Total Pages : 480 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Inherited Metabolic Diseases by : John B. Holton

Download or read book The Inherited Metabolic Diseases written by John B. Holton and published by . This book was released on 1987 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Inherited Metabolic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Atlas of Inherited Metabolic Diseases 3E

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Publisher : CRC Press
ISBN 13 : 1444149482
Total Pages : 889 pages
Book Rating : 4.4/5 (441 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases 3E by : William Nyhan

Download or read book Atlas of Inherited Metabolic Diseases 3E written by William Nyhan and published by CRC Press. This book was released on 2011-12-30 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, autho

Inherited Metabolic Disease in Adults

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Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

The New Human Genetics

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Publisher :
ISBN 13 :
Total Pages : 54 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis The New Human Genetics by : Maya Pines

Download or read book The New Human Genetics written by Maya Pines and published by . This book was released on 1976 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cancer as a Metabolic Disease

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Publisher : John Wiley & Sons
ISBN 13 : 1118310306
Total Pages : 482 pages
Book Rating : 4.1/5 (183 download)

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Book Synopsis Cancer as a Metabolic Disease by : Thomas Seyfried

Download or read book Cancer as a Metabolic Disease written by Thomas Seyfried and published by John Wiley & Sons. This book was released on 2012-05-18 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.

Medico-Social Management of Inherited Metabolic Disease

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Publisher : Springer Science & Business Media
ISBN 13 : 9401161739
Total Pages : 309 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis Medico-Social Management of Inherited Metabolic Disease by : D.N. Raine

Download or read book Medico-Social Management of Inherited Metabolic Disease written by D.N. Raine and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.

Essentials of Glycobiology

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Publisher : CSHL Press
ISBN 13 : 9780879696818
Total Pages : 694 pages
Book Rating : 4.6/5 (968 download)

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Book Synopsis Essentials of Glycobiology by : Ajit Varki

Download or read book Essentials of Glycobiology written by Ajit Varki and published by CSHL Press. This book was released on 1999 with total page 694 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.

Atlas of Inherited Metabolic Diseases

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Publisher : CRC Press
ISBN 13 : 1138196622
Total Pages : 1762 pages
Book Rating : 4.1/5 (381 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases by : William L Nyhan

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 1762 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Vademecum Metabolicum

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Publisher : Schattauer Verlag
ISBN 13 : 3794528166
Total Pages : 188 pages
Book Rating : 4.7/5 (945 download)

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Book Synopsis Vademecum Metabolicum by : Johannes Zschocke

Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Exosomes in Cardiovascular Diseases

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Publisher : Springer
ISBN 13 : 9811043973
Total Pages : 300 pages
Book Rating : 4.8/5 (11 download)

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Book Synopsis Exosomes in Cardiovascular Diseases by : Junjie Xiao

Download or read book Exosomes in Cardiovascular Diseases written by Junjie Xiao and published by Springer. This book was released on 2017-09-19 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides and intensive overview on exosomes in cardiovascular diseases, its potential as biomarkers, as well as pathological and therapeutic effects. It firstly describes the general aspects of exosomes including the definition, formation and secretion of exosomes and highlight their roles as biomarkers and pathological and therapeutic effects in cardiovascular diseases as well. Secondly, basic aspects of exosomes including the purification methods of exosomes, exosomes content, and functional roles of the cardiovascular exosomes are summarized. Thirdly, exosomes as biomarkers of cardiovascular diseases are overviewed including their roles in diagnosis, prognosis and reaction to therapy. Fourthly, pathological effects of exosomes and therapeutic effects of exosomes are highlighted. Finally, future prospects of exosomes in cardiovascular research would be provided. This is an essential reference for researchers working in cell biology and regeneration, as well as clinicians such as cardiologist.

Studies in Inherited Metabolic Disease

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Publisher : Springer Science & Business Media
ISBN 13 : 940091069X
Total Pages : 407 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Studies in Inherited Metabolic Disease by : G.M. Addison

Download or read book Studies in Inherited Metabolic Disease written by G.M. Addison and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and mortality in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and is complicated by the large number of diverse conditions and by the rapid developments in the field, both obstetric in relation to imaging and tissue sampling methods and genetic in relation to techniques for analysis. Against this background, the aim of the Symposium was to provide an overview of the current status of prenatal and perinatal diagnosis of inborn errors of metabolism. The format consisted of the usual mixture of specific invited overviews and free communications in either oral or poster form. 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. Similarly, the oral com munications included reviews of experience with biochemical analysis of chorionic villus sampling from major centres, more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy.

Respiratory Muscle Strength Training

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Publisher : Plural Publishing
ISBN 13 : 1635502608
Total Pages : 302 pages
Book Rating : 4.6/5 (355 download)

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Book Synopsis Respiratory Muscle Strength Training by : Christine Sapienza

Download or read book Respiratory Muscle Strength Training written by Christine Sapienza and published by Plural Publishing. This book was released on 2020-12-18 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: Respiratory Muscle Strength Training is a clinical guide, intended to provide clinicians with the background information they need to understand respiratory muscle strength training (RMST). With a variety of case studies provided by well-known authors and clinicians, this text acts as a guidebook to the RMST protocol and provides practical information for use in the field of healthcare. In addition to real-world case studies, Respiratory Muscle Strength Training includes a chapter devoted to Frequently Asked Questions, a representative sample of the devices commonly used for respiratory training, and instructions for using them in patient care.

Research Awards Index

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Publisher :
ISBN 13 :
Total Pages : 742 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Research Awards Index by :

Download or read book Research Awards Index written by and published by . This book was released on 1989 with total page 742 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Molecular Biology of the Cell

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Publisher :
ISBN 13 : 9780815332183
Total Pages : 0 pages
Book Rating : 4.3/5 (321 download)

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Book Synopsis Molecular Biology of the Cell by :

Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: