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Author :
Publisher :
ISBN 13 :
Total Pages : 336 pages
Book Rating : 4.:/5 (483 download)
Download or read book Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism written by and published by . This book was released on 1971 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher :
ISBN 13 : 9783134669015
Total Pages : 0 pages
Book Rating : 4.6/5 (69 download)
Download or read book Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism written by and published by . This book was released on 1971 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Horst Bickel
Publisher :
ISBN 13 :
Total Pages : 356 pages
Book Rating : 4.3/5 (91 download)
Download or read book Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism: Biochemistry, Genetics, Diagnosis, Therapy written by Horst Bickel and published by . This book was released on 1971 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher : ScholarlyEditions
ISBN 13 : 1464955808
Total Pages : 26 pages
Book Rating : 4.4/5 (649 download)
Download or read book Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Amino Acid Metabolism in a compact format. The editors have built Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Amino Acid Metabolism in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 3540289623
Total Pages : 404 pages
Book Rating : 4.5/5 (42 download)
Download or read book Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
Author : Brendan Lee
Publisher : Oxford Monographs on Medical G
ISBN 13 : 0199797587
Total Pages : 393 pages
Book Rating : 4.1/5 (997 download)
Download or read book Inborn Errors of Metabolism written by Brendan Lee and published by Oxford Monographs on Medical G. This book was released on 2014-10-13 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Uttam Garg
Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)
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.
Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author : K. Tada
Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, 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 both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Author : N. Blau
Publisher : Springer Science & Business Media
ISBN 13 : 364255878X
Total Pages : 732 pages
Book Rating : 4.6/5 (425 download)
Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of 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. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been 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 three indices to make the book as user-friendly as possible.
Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author : Juan M. Pascual
Publisher : Cambridge University Press
ISBN 13 : 1107042054
Total Pages : 507 pages
Book Rating : 4.1/5 (7 download)
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)
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.
