Author : John A.H. Wass
Publisher : Oxford University Press, USA
Page : 2158 pages
File Size : 17,64 MB
Release : 2011-07-28
Category : Medical
ISBN : 0199235295
Now in its second edition, the Oxford Textbook of Endocrinology and Diabetes is a fully comprehensive, evidence-based, and highly-valued reference work combining basic science with clinical guidance, and providing first rate advice on diagnosis and treatment.
Author : Carla E. M. Hollak
Publisher : Oxford University Press
Page : 657 pages
File Size : 45,64 MB
Release : 2016
Category : Medical
ISBN : 0199972133
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 : Uttam Garg
Publisher : Elsevier
Page : 477 pages
File Size : 36,53 MB
Release : 2017-06-07
Category : Medical
ISBN : 0128029188
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 : Johannes Zschocke
Publisher : Schattauer Verlag
Page : 188 pages
File Size : 37,39 MB
Release : 2011
Category : Pediatrics
ISBN : 3794528166
Author : Nenad Blau
Publisher : Springer Science & Business Media
Page : 404 pages
File Size : 37,91 MB
Release : 2006-01-16
Category : Medical
ISBN : 3540289623
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 : K. Tada
Publisher : Springer Science & Business Media
Page : 421 pages
File Size : 34,61 MB
Release : 2013-03-14
Category : Medical
ISBN : 3662031477
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 : Frederick J. Suchy
Publisher : Cambridge University Press
Page : 995 pages
File Size : 45,97 MB
Release : 2007-05-07
Category : Medical
ISBN : 1139464035
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.
Author : Laurie E. Bernstein
Publisher : Springer
Page : 363 pages
File Size : 35,65 MB
Release : 2015-06-03
Category : Medical
ISBN : 3319146211
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 : Vanessa Shaw
Publisher : John Wiley & Sons
Page : 709 pages
File Size : 39,17 MB
Release : 2020-06-24
Category : Medical
ISBN : 1119467284
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 : Amitava Dasgupta
Publisher : Elsevier
Page : 145 pages
File Size : 40,81 MB
Release : 2019-01-15
Category : Science
ISBN : 0128167416
Biotin and Other Interferences in Immunoassays: A Concise Guide is aimed at clinical laboratory scientists, medical technologists and pathologists who are often the first individuals contacted by a clinician when a laboratory test result does not correlate with clinical presentation. Research scientists working in diagnostics companies will also find this information essential. Sources of errors in non-immunoassay based methods used in clinical chemistry and toxicology laboratory are also discussed so readers can get all important information from one concise guide. This succinct, user-friendly reference provides the necessary information to address high levels of biotin in clinical laboratory results. - Discusses issues of biotin interferences and ways to avoid them for accurate clinical laboratory results - Provides sources of errors in non-immunoassay based methods used in clinical chemistry and toxicology laboratories - Highlights how to handle specimens in the lab and how to eliminate the effect of biotin in precious samples
