Advances in Inborn Errors Metabolism Research and Treatment: 2012 Edition

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Publisher : ScholarlyEditions
ISBN 13 : 1481625810
Total Pages : 31 pages
Book Rating : 4.4/5 (816 download)

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Book Synopsis Advances in Inborn Errors Metabolism Research and Treatment: 2012 Edition by :

Download or read book Advances in Inborn Errors Metabolism Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 31 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Metabolism Research and Treatment / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Metabolism in a compact format. The editors have built Advances in Inborn Errors Metabolism Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors 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 Metabolism Research and Treatment / 2012 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/.

Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2012 Edition

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Publisher : ScholarlyEditions
ISBN 13 : 1481635875
Total Pages : 22 pages
Book Rating : 4.4/5 (816 download)

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Book Synopsis Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2012 Edition by :

Download or read book Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 22 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Steroid Metabolism Research and Treatment / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Steroid Metabolism in a compact format. The editors have built Advances in Inborn Errors Steroid Metabolism Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Steroid 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 Steroid Metabolism Research and Treatment / 2012 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/.

Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2012 Edition

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Publisher : ScholarlyEditions
ISBN 13 : 1481615963
Total Pages : 53 pages
Book Rating : 4.4/5 (816 download)

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Book Synopsis Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2012 Edition by :

Download or read book Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 53 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Amino Acid Metabolism Research and Treatment / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Inborn Errors Amino Acid Metabolism in a concise format. The editors have built Advances in Inborn Errors Amino Acid Metabolism Research and Treatment / 2012 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 / 2012 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/.

Inborn Metabolic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

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.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

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.

Brain Disorders in Critical Illness

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Publisher : Cambridge University Press
ISBN 13 : 1107434424
Total Pages : 457 pages
Book Rating : 4.1/5 (74 download)

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Book Synopsis Brain Disorders in Critical Illness by : Robert D. Stevens

Download or read book Brain Disorders in Critical Illness written by Robert D. Stevens and published by Cambridge University Press. This book was released on 2013-09-19 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain dysfunction is a major clinical problem in intensive care, with potentially debilitating long-term consequences for post-ICU patients of any age. The resulting extended length of stay in the ICU and post-discharge cognitive dysfunction are now recognized as major healthcare burdens. This comprehensive clinical text provides intensivists and neurologists with a practical review of the pathophysiology of brain dysfunction and a thorough account of the diagnostic and therapeutic options available. Initial sections review the epidemiology, outcomes, relevant behavioral neurology and biological mechanisms of brain dysfunction. Subsequent sections evaluate the available diagnostic options and preventative and therapeutic interventions, with a final section on clinical encephalopathy syndromes encountered in the ICU. Each chapter is rich in illustrations, with an executive summary and a helpful glossary of terms. Brain Disorders in Critical Illness is a seminal reference for all physicians and neuroscientists interested in the care and outcome of severely ill patients.

Advances in Biomedical Engineering Research and Application: 2012 Edition

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Publisher : ScholarlyEditions
ISBN 13 : 1464991537
Total Pages : 816 pages
Book Rating : 4.4/5 (649 download)

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Book Synopsis Advances in Biomedical Engineering Research and Application: 2012 Edition by :

Download or read book Advances in Biomedical Engineering Research and Application: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 816 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Biomedical Engineering Research and Application / 2012 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about Biomedical Engineering. The editors have built Advances in Biomedical Engineering Research and Application / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Biomedical Engineering 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 Biomedical Engineering Research and Application / 2012 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/.

Disease Control Priorities, Third Edition (Volume 6)

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Publisher : World Bank Publications
ISBN 13 : 1464805253
Total Pages : 1027 pages
Book Rating : 4.4/5 (648 download)

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Book Synopsis Disease Control Priorities, Third Edition (Volume 6) by : King K. Holmes

Download or read book Disease Control Priorities, Third Edition (Volume 6) written by King K. Holmes and published by World Bank Publications. This book was released on 2017-11-06 with total page 1027 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infectious diseases are the leading cause of death globally, particularly among children and young adults. The spread of new pathogens and the threat of antimicrobial resistance pose particular challenges in combating these diseases. Major Infectious Diseases identifies feasible, cost-effective packages of interventions and strategies across delivery platforms to prevent and treat HIV/AIDS, other sexually transmitted infections, tuberculosis, malaria, adult febrile illness, viral hepatitis, and neglected tropical diseases. The volume emphasizes the need to effectively address emerging antimicrobial resistance, strengthen health systems, and increase access to care. The attainable goals are to reduce incidence, develop innovative approaches, and optimize existing tools in resource-constrained settings.

Neonatal Screening for Inborn Errors of Metabolism

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Publisher : Springer
ISBN 13 : 9783642674907
Total Pages : 0 pages
Book Rating : 4.6/5 (749 download)

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Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel

Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.

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:

Biomarkers in Inborn Errors of Metabolism

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Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg

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

Advances in Hypothyroidism Research and Treatment: 2012 Edition

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Publisher : ScholarlyEditions
ISBN 13 : 1481631632
Total Pages : 25 pages
Book Rating : 4.4/5 (816 download)

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Book Synopsis Advances in Hypothyroidism Research and Treatment: 2012 Edition by :

Download or read book Advances in Hypothyroidism Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 25 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Hypothyroidism Research and Treatment / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Hypothyroidism in a compact format. The editors have built Advances in Hypothyroidism Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Hypothyroidism 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 Hypothyroidism Research and Treatment / 2012 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/.

Principles and Practice of Screening for Disease

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Publisher :
ISBN 13 : 9789241300346
Total Pages : 163 pages
Book Rating : 4.3/5 (3 download)

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Book Synopsis Principles and Practice of Screening for Disease by : J. M. G. Wilson

Download or read book Principles and Practice of Screening for Disease written by J. M. G. Wilson and published by . This book was released on 1968 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: The basic principles of early disease detection, practical considerations, including the application of screening procedures in a number of different disease conditions, and, finally, present techniques and possible developments in methodology. Screening for the chronic non-communicable diseases prevalent in the more advanced countries froms the main subject of the report, but the problems facing countries at other stages of development and with different standards and types of medical care are also discussed, and because of this communicable disease detection is also dealth with to some extent.

Atlas of Inherited Retinal Diseases

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Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 262 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Atlas of Inherited Retinal Diseases by : Stephen H. Tsang

Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Liver Disease in Children

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Publisher : Cambridge University Press
ISBN 13 : 1139464035
Total Pages : 995 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Liver Disease in Children by : Frederick J. Suchy

Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.

Patient-Reported Outcomes in Performance Measurement

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Publisher : RTI Press
ISBN 13 : 193483114X
Total Pages : 97 pages
Book Rating : 4.9/5 (348 download)

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Book Synopsis Patient-Reported Outcomes in Performance Measurement by : David Cella

Download or read book Patient-Reported Outcomes in Performance Measurement written by David Cella and published by RTI Press. This book was released on 2015-09-17 with total page 97 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patient-reported outcomes (PROs) are measures of how patients feel or what they are able to do in the context of their health status; PROs are reports, usually on questionnaires, about a patient's health conditions, health behaviors, or experiences with health care that individuals report directly, without modification of responses by clinicians or others; thus, they directly reflect the voice of the patient. PROs cover domains such as physical health, mental and emotional health, functioning, symptoms and symptom burden, and health behaviors. They are relevant for many activities: helping patients and their clinicians make informed decisions about health care, monitoring the progress of care, setting policies for coverage and reimbursement of health services, improving the quality of health care services, and tracking or reporting on the performance of health care delivery organizations. We address the major methodological issues related to choosing, administering, and using PROs for these purposes, particularly in clinical practice settings. We include a framework for best practices in selecting PROs, focusing on choosing appropriate methods and modes for administering PRO measures to accommodate patients with diverse linguistic, cultural, educational, and functional skills, understanding measures developed through both classic and modern test theory, and addressing complex issues relating to scoring and analyzing PRO data.

Diagnosis of Organic Acidemias by Gas Chromatography-mass Spectrometry

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Publisher :
ISBN 13 :
Total Pages : 184 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Diagnosis of Organic Acidemias by Gas Chromatography-mass Spectrometry by : Stephen I. Goodman

Download or read book Diagnosis of Organic Acidemias by Gas Chromatography-mass Spectrometry written by Stephen I. Goodman and published by . This book was released on 1981 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Določevanje acidoze, ki nastopi zaradi organskih kislin, s kombinacijo GC-MS.