The Cultured Cell And Inherited Metabolic Disease
DOWNLOAD
Download The Cultured Cell And Inherited Metabolic Disease PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get The Cultured Cell And Inherited Metabolic Disease book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
The Cultured Cell And Inherited Metabolic Disease
DOWNLOAD
Author : R. Angus Harkness
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
The Cultured Cell And Inherited Metabolic Disease written by R. Angus Harkness and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
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 Inherited Metabolic Diseases
DOWNLOAD
Author : John B. Holton
language : en
Publisher:
Release Date : 1994
The Inherited Metabolic Diseases written by John B. Holton and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with Medical categories.
Atlas Of Inherited Metabolic Diseases 3e
DOWNLOAD
Author : William Nyhan
language : en
Publisher: CRC Press
Release Date : 2011-12-30
Atlas Of Inherited Metabolic Diseases 3e written by William Nyhan and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-12-30 with Medical categories.
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
DOWNLOAD
Author : Carla E. M. Hollak
language : en
Publisher: Oxford University Press
Release Date : 2016
Inherited Metabolic Disease In Adults written by Carla E. M. Hollak and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Medical categories.
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.
Medico Social Management Of Inherited Metabolic Disease
DOWNLOAD
Author : D.N. Raine
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Medico Social Management Of Inherited Metabolic Disease written by D.N. Raine and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
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.
Atlas Of Inherited Metabolic Diseases
DOWNLOAD
Author : William L Nyhan
language : en
Publisher: CRC Press
Release Date : 2020-07-14
Atlas Of Inherited Metabolic Diseases written by William L Nyhan and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-07-14 with Medical categories.
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.
Studies In Inherited Metabolic Disease
DOWNLOAD
Author : G.M. Addison
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Studies In Inherited Metabolic Disease written by G.M. Addison and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
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.
Research Awards Index
DOWNLOAD
Author :
language : en
Publisher:
Release Date : 1989
Research Awards Index written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1989 with Medicine categories.
Essentials Of Glycobiology
DOWNLOAD
Author : Ajit Varki
language : en
Publisher: CSHL Press
Release Date : 1999
Essentials Of Glycobiology written by Ajit Varki and has been published by CSHL Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999 with Medical categories.
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.
Research Grants Index
DOWNLOAD
Author : National Institutes of Health (U.S.). Division of Research Grants
language : en
Publisher:
Release Date : 1975
Research Grants Index written by National Institutes of Health (U.S.). Division of Research Grants and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1975 with Medicine categories.