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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 : 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 :
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 : United States. Health Resources and Services Administration. Division of Maternal and Child Health
Publisher :
ISBN 13 :
Total Pages : 40 pages
Book Rating : 4.3/5 (91 download)
Download or read book Dental Health in Children with Phenylketonuria PKU and Other Inborn Errors of Amino Acid Metabolism Managed by Diet written by United States. Health Resources and Services Administration. Division of Maternal and Child Health and published by . This book was released on 1984 with total page 40 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 : Hans J. Bremer
Publisher : Urban & Schwarzenberg
ISBN 13 :
Total Pages : 552 pages
Book Rating : 4.3/5 (91 download)
Download or read book Disturbances of Amino Acid Metabolism written by Hans J. Bremer and published by Urban & Schwarzenberg. This book was released on 1981 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher : ScholarlyEditions
ISBN 13 : 1481615963
Total Pages : 53 pages
Book Rating : 4.4/5 (816 download)
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/.
Author :
Publisher : ScholarlyEditions
ISBN 13 : 1464955816
Total Pages : 21 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 21 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 : Charles R. Scriver
Publisher : W.B. Saunders Company
ISBN 13 :
Total Pages : 516 pages
Book Rating : 4.3/5 (91 download)
Download or read book Amino Acid Metabolism and Its Disorders written by Charles R. Scriver and published by W.B. Saunders Company. This book was released on 1973 with total page 516 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Vanessa Shaw
Publisher : John Wiley & Sons
ISBN 13 : 1119467284
Total Pages : 704 pages
Book Rating : 4.1/5 (194 download)
Download or read book Clinical Paediatric Dietetics written by Vanessa Shaw and published by John Wiley & Sons. This book was released on 2020-06-24 with total page 704 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Paediatric Dietetics, Fifth Edition continues to provide a very practical approach to dietary management of children with an extensive range of disorders. Thoroughly revised to reflect the most recent scientific and medical literature, this new edition proves to be an indispensable guide for both acute and community-based healthcare professionals. New and expanded content covering a range of disorders, treatments and guidelines has been introduced to the fifth edition, from diabetes technology and the ketogenic diet, to renal tubular disorders, refeeding syndrome, and blended diets in enteral nutrition. This authoritative volume: Supports contemporary evidence-based clinical practice Covers inherited metabolic disorders and diseases of all major organ systems Provides contributions from practising paediatric dietitians, academic research dietitians and a paediatric psychiatrist Includes worked examples, real-world case studies and easy-to-use tables Produced in collaboration with the British Dietetic Association (BDA) and the BDA Paediatric Specialist Group, Clinical Paediatric Dietetics is an invaluable resource for all healthcare practitioners caring for children.
Author :
Publisher : Newnes
ISBN 13 : 0702045381
Total Pages : 720 pages
Book Rating : 4.7/5 (2 download)
Download or read book Neuroimaging, Part II written by and published by Newnes. This book was released on 2016-07-12 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuroimaging, Part Two, a volume in The Handbook of Clinical Neurology series, illustrates how neuroimaging is rapidly expanding its reach and applications in clinical neurology. It is an ideal resource for anyone interested in the study of the nervous system, and is useful to both beginners in various related fields and to specialists who want to update or refresh their knowledge base on neuroimaging. This second volume covers imaging of the adult spine and peripheral nervous system, as well as pediatric neuroimaging. In addition, it provides an overview of the differential diagnosis of the most common imaging findings, such as ring enhancement on MRI, and a review of the indications for imaging in the most frequent neurological syndromes. The volume concludes with a review of neuroimaging in experimental animals and how it relates to neuropathology. It brings broad coverage of the topic using many color images to illustrate key points. Contributions from leading global experts are collated, providing the broadest view of neuroimaging as it currently stands. For a number of neurological disorders, imaging is not only critical for diagnosis, but also for monitoring the effect of therapies, with the entire field moving from curing diseases to preventing them. Most of the information contained in this volume reflects the newness of this approach, pointing to the new horizon in the study of neurological disorders. Provides a relevant description of the technologies used in neuroimaging, such as computed tomography, magnetic resonance imaging, positron emission tomography, and several others Discusses the application of these techniques to the study of brain and spinal cord disease Explores the indications for the use of these techniques in various syndromes
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 : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 363 pages
Book Rating : 4.3/5 (191 download)
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
Author :
Publisher :
ISBN 13 :
Total Pages : 28 pages
Book Rating : 4.:/5 (14 download)
Download or read book Dental health in children with phenylketonuria PKU and other inborn errors of amino acid metabolism managed by diet written by and published by . This book was released on 1984 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 : 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.
