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.
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by and published by . This book was released on 1996 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Physician s Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases written by N. Blau and published by CRC Press. This book was released on 1998-09-04 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: University of Zurich, Switzerland. Handbook of inherited metabolic diseases, for physicians, clinical chemists, biochemists, and pathologists. Discusses testing and treatment options of inborn errors of metabolism. Extensive tables and flowcharts. 51 contributors, 16 U.S.
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 Nature. This book was released on 2022-02-21 with total page 1514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and enlarged second edition 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 clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
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.
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.
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Download or read book Laboratory Diagnosis written by Uttam Garg and published by AACC Press. This book was released on 2012 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Right Test written by Carl E. Speicher and published by W.B. Saunders Company. This book was released on 1989 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dr. Speicher's popular resource on the selection, interpretation, and use of laboratory tests is back in a revised and updated 3rd Edition. Features quick, dependable test taking guidelines for over 70 of the most common medical problems, and a new emphasis on outcome and analysis. Now examines over 90% of test-dependent patient care situations!
Download or read book Differential Diagnosis by Laboratory Medicine written by Vincent Marks and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 1123 pages. Available in PDF, EPUB and Kindle. Book excerpt: This extensive handbook helps clinicians and physicians make a precise diagnosis as well as the right decisions for patient treatment. Up-to-date and comprehensive information for differential diagnosis is presented in a well-structured manner. The different sections describe more than 1950 conditions and around 1200 drugs. It also includes a comprehensive section on international reference values of clinical-biochemical and laboratory parameters. The detailed parameter index and an extensive list of frequently used synonyms and abbreviations enable the reader to quickly locate the information they are looking for.
Download or read book Lab Literacy for Doctors written by Christopher Naugler, MD, FRCPC and published by Brush Education. This book was released on 2014-10-13 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lab Literacy for Doctors helps you make quick and efficient decisions about the right tests for typical clinical situations, thereby improving patient care. In a study published by the Journal of the American Board of Family Medicine (2014-03-01), primary care physicians reported that 15% of the time they are unsure about ordering lab tests and 8% of the time they are unsure about interpreting the results. This raises concerns about the need for more efficient and cost-effective lab test utilization. Lab Literacy for Doctors addresses these concerns in a practical, up-to-date, and easy-to-use format. Refer to this essential guide for: A quick index summarizing the clinical utility of common tests. Advice and information on lab errors, false positives and negatives, and blood and tissue collection. Sections on dermatology, ENT and respiratory system, endocrine system, fatigue, GI and hepatic system, gynecology and pregnancy, routine screening, and more.
Download or read book Endocrine and Metabolic Disorders written by Robert F. Dons and published by CRC Press. This book was released on 2009-06-17 with total page 612 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bottom Line Information to Effectively Diagnose DisordersThe diagnosis, management, and clinical testing associated with old, traditional, and new endocrine disorders have seen numerous advances during the past 10 years since the publication of the previous edition of this bestselling resource. Updating its classic predecessor in content and format
Download or read book A Quick Guide to Metabolic Disease Testing Interpretation written by Patricia Jones and published by Academic Press. This book was released on 2020-07-31 with total page 220 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM. Includes pathway diagrams and representative compound scans of important diagnostic compounds Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism Highlights brief descriptions of the etiology and clinical presentation of each presented disorder
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:
Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by . This book was released on 2021-01-13 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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.
Download or read book Interpretation of Diagnostic Tests written by Jacques Burton Wallach and published by Little, Brown Medical Division. This book was released on 1996 with total page 1116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Includes information on laboratory procedures used in the diagnosis and treatment of many adult and pediatric conditions.
