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Author : F. Cockburn
Publisher : Springer Science & Business Media
ISBN 13 : 940097325X
Total Pages : 298 pages
Book Rating : 4.4/5 (9 download)
Download or read book Inborn Errors of Metabolism in Humans written by F. Cockburn and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 :
Publisher : ScholarlyEditions
ISBN 13 : 1464916691
Total Pages : 18 pages
Book Rating : 4.4/5 (649 download)
Download or read book Inborn Errors of Metabolism: New Insights for the Healthcare Professional: 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 18 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn Errors of Metabolism: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors of Metabolism in a compact format. The editors have built Inborn Errors of Metabolism: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors of 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 Inborn Errors of Metabolism: New Insights for the Healthcare Professional: 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 : Cockburn
Publisher :
ISBN 13 : 9780471563723
Total Pages : pages
Book Rating : 4.5/5 (637 download)
Download or read book Inborn Errors of Metabolism in Humans written by Cockburn and published by . This book was released on 1982-10-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (793 download)
Download or read book Inborn Errors of Metabolism in Man written by and published by . This book was released on 1978 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 : Alex V. Levin
Publisher : Springer
ISBN 13 : 3319183893
Total Pages : 836 pages
Book Rating : 4.3/5 (191 download)
Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Download or read book Inborn Errors of Metabolism in Man written by and published by . This book was released on 1978 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : International Symposium on Inborn Errors of Metabo
Publisher :
ISBN 13 :
Total Pages : 92 pages
Book Rating : 4.3/5 (91 download)
Download or read book Inborn Errors of Metabolism in Man written by International Symposium on Inborn Errors of Metabo and published by . This book was released on 1978 with total page 92 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Ingo Sperl
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (142 download)
Download or read book Inborn errors of metabolism in man. Part 1 Carbohydrate, amino and lipid metabolism written by Ingo Sperl and published by . This book was released on 1978 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inborn Errors of Metabolism in Man written by and published by . This book was released on 1978 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book INBORN ERRORS OF METABOLISM IN MAN- ABSTRACTS OF PAPERS PRESENTED AT AN INTERNATIONAL SYMPOSIUM. written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : David Yi-Yung Hsia
Publisher :
ISBN 13 : 9781258651428
Total Pages : 358 pages
Book Rating : 4.6/5 (514 download)
Download or read book Inborn Errors of Metabolism written by David Yi-Yung Hsia and published by . This book was released on 2013-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Oded Sperling
Publisher :
ISBN 13 : 9783805528368
Total Pages : 258 pages
Book Rating : 4.5/5 (283 download)
Download or read book Inborn errors of metabolism in man written by Oded Sperling and published by . This book was released on 1978 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 : Oded Sperling
Publisher :
ISBN 13 : 9783805528351
Total Pages : 241 pages
Book Rating : 4.5/5 (283 download)
Download or read book Inborn errors of metabolism in man : 1. International Symposium on Inborn Errors of Metabolism in Man, Tel Aviv, June 19-25,1977. 2. Connective tissue and purine matabolism, and endocrinology written by Oded Sperling and published by . This book was released on 1978 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Oded Sperling
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (52 download)
Download or read book Inborn Errors of Metabolism in Man written by Oded Sperling and published by . This book was released on 1978 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
