Inborn Errors Of Metabolism In Humans
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Inborn Errors Of Metabolism In Humans
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Author : F. Cockburn
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Inborn Errors Of Metabolism In Humans written by F. Cockburn 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.
Inborn Errors Of Metabolism In Humans
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Author : Cockburn
language : en
Publisher:
Release Date : 1982-10-01
Inborn Errors Of Metabolism In Humans written by Cockburn and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1982-10-01 with categories.
Inborn Errors Of Metabolism In Man
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Author :
language : en
Publisher:
Release Date : 1978
Inborn Errors Of Metabolism In Man written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1978 with Metabolism, Inborn errors of categories.
Inborn Errors Of Metabolism
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Author : Brendan Lee
language : en
Publisher: Oxford Monographs on Medical G
Release Date : 2014-10-13
Inborn Errors Of Metabolism written by Brendan Lee and has been published by Oxford Monographs on Medical G this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-10-13 with Medical categories.
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Inborn Metabolic Diseases
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Author : K. Tada
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-14
Inborn Metabolic Diseases written by K. Tada 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 2013-03-14 with Medical categories.
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Inborn Errors Of Metabolism In Man
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Author : International Symposium on Inborn Errors of Metabo
language : en
Publisher:
Release Date : 1978
Inborn Errors Of Metabolism In Man written by International Symposium on Inborn Errors of Metabo and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1978 with Medical categories.
The Cultured Cell And Inherited Metabolic Disease
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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.
Biomarkers In Inborn Errors Of Metabolism
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Author : Uttam Garg
language : en
Publisher: Elsevier
Release Date : 2017-06-07
Biomarkers In Inborn Errors Of Metabolism written by Uttam Garg and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-06-07 with Medical categories.
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Abstracts Of The Third International Symposium On Inborn Errors Of Metabolism In Humans Munich March 7 9 1984
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Author : International Symposium on Inborn Errors of Metabolism in Humans
language : en
Publisher: S Karger Ag
Release Date : 1984
Abstracts Of The Third International Symposium On Inborn Errors Of Metabolism In Humans Munich March 7 9 1984 written by International Symposium on Inborn Errors of Metabolism in Humans and has been published by S Karger Ag this book supported file pdf, txt, epub, kindle and other format this book has been release on 1984 with Medical categories.
Inborn Errors Of Metabolism In Man
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Author : Oded Sperling
language : en
Publisher:
Release Date : 1978
Inborn Errors Of Metabolism In Man written by Oded Sperling and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1978 with Metabolism, Inborn errors of categories.