The Cultured Cell and Inherited Metabolic Disease

The Cultured Cell and Inherited Metabolic Disease PDF Author: R. Angus Harkness
Publisher: Springer Science & Business Media
ISBN: 9401166277
Category : Medical
Languages : en
Pages : 213

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Book Description
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

The Cultured Cell and Inherited Metabolic Disease PDF Author: R. Angus Harkness
Publisher: Springer Science & Business Media
ISBN: 9401166277
Category : Medical
Languages : en
Pages : 213

Get Book Here

Book Description
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

The Cultured Cell and Inherited Metabolic Disease PDF Author:
Publisher:
ISBN:
Category :
Languages : en
Pages : 0

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Book Description


Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults PDF Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657

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Book Description
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.

Cancer as a Metabolic Disease

Cancer as a Metabolic Disease PDF Author: Thomas Seyfried
Publisher: John Wiley & Sons
ISBN: 1118310306
Category : Science
Languages : en
Pages : 482

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Book Description
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.

The Inherited Metabolic Diseases

The Inherited Metabolic Diseases PDF Author: John B. Holton
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 616

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Book Description


Atlas of Inherited Metabolic Diseases 3E

Atlas of Inherited Metabolic Diseases 3E PDF Author: William Nyhan
Publisher: CRC Press
ISBN: 1444149482
Category : Medical
Languages : en
Pages : 889

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Book Description
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

Medico-Social Management of Inherited Metabolic Disease

Medico-Social Management of Inherited Metabolic Disease PDF Author: D.N. Raine
Publisher: Springer Science & Business Media
ISBN: 9401161739
Category : Medical
Languages : en
Pages : 309

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Book Description
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.

Basic Science Methods for Clinical Researchers

Basic Science Methods for Clinical Researchers PDF Author: Morteza Jalali
Publisher: Academic Press
ISBN: 012803078X
Category : Science
Languages : en
Pages : 383

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Book Description
Basic Science Methods for Clinical Researchers addresses the specific challenges faced by clinicians without a conventional science background. The aim of the book is to introduce the reader to core experimental methods commonly used to answer questions in basic science research and to outline their relative strengths and limitations in generating conclusive data. This book will be a vital companion for clinicians undertaking laboratory-based science. It will support clinicians in the pursuit of their academic interests and in making an original contribution to their chosen field. In doing so, it will facilitate the development of tomorrow’s clinician scientists and future leaders in discovery science. Serves as a helpful guide for clinical researchers who lack a conventional science background Organized around research themes pertaining to key biological molecules, from genes, to proteins, cells, and model organisms Features protocols, techniques for troubleshooting common problems, and an explanation of the advantages and limitations of a technique in generating conclusive data Appendices provide resources for practical research methodology, including legal frameworks for using stem cells and animals in the laboratory, ethical considerations, and good laboratory practice (GLP)

Atlas of Inherited Metabolic Diseases

Atlas of Inherited Metabolic Diseases PDF Author: William L Nyhan
Publisher: CRC Press
ISBN: 1138196622
Category : Medical
Languages : en
Pages : 1762

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Book Description
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.

Respiratory Muscle Strength Training

Respiratory Muscle Strength Training PDF Author: Christine Sapienza
Publisher: Plural Publishing
ISBN: 1635502608
Category : Medical
Languages : en
Pages : 302

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Book Description
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.