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A Quick Guide To Metabolic Disease Testing Interpretation


A Quick Guide To Metabolic Disease Testing Interpretation
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A Quick Guide To Metabolic Disease Testing Interpretation


A Quick Guide To Metabolic Disease Testing Interpretation
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Author : Patricia Jones
language : en
Publisher: Academic Press
Release Date : 2020-07-31

A Quick Guide To Metabolic Disease Testing Interpretation written by Patricia Jones and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-07-31 with Science categories.


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



Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases


Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer Science & Business Media
Release Date : 2003

Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases written by Nenad Blau and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Medical categories.


Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, 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 four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. 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. The book includes a CD-ROM with search function.



Handbook Of Nutritional Disorders


Handbook Of Nutritional Disorders
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Author : Jahangir Moini
language : en
Publisher: CRC Press
Release Date : 2024-12-10

Handbook Of Nutritional Disorders written by Jahangir Moini and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-12-10 with Medical categories.


Handbook of Nutritional Disorders is a comprehensive handbook covering topics in nutrition, malnutrition, and the clinical disorders associated with nutrition from deficiency to toxicity. It includes information on disorders related to carbohydrate, lipid, and protein metabolism as well as vitamin and mineral abnormalities. The book details various types of supplements, feeding methods, and therapies for many specific patients. It aims to educate readers on ways to prevent disorders resulting from all types of malnutrition and their potentially severe complications. Features Strong focus on diabetes featuring information on various forms of the disease and treatment information Detailed discussion of lipids and related disorders – cardiovascular disease is the number one cause of death, informs users on prevention and treatment of hypertension, myocardial infarction, and stroke Contains information on selective nutritional disorders including obesity, dehydration, imbalances, malabsorption, alcoholism, neuropsychiatric disorders, eating disorders, cancer, and pollutant poisonings Written for researchers, academia, and students in healthcare and nutrition fields, this book educates individuals on prevention of disorders resulting from all types of malnutrition and their potentially severe complications.



Medical And Health Research Theory Method And Practice


Medical And Health Research Theory Method And Practice
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Author : Nizami Duran
language : en
Publisher: Livre de Lyon
Release Date : 2021-09-15

Medical And Health Research Theory Method And Practice written by Nizami Duran and has been published by Livre de Lyon this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-15 with Medical categories.


Medical and Health Research Theory, Method and Practice



Inherited Metabolic Diseases


Inherited Metabolic Diseases
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Author : Georg F. Hoffmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-21

Inherited Metabolic Diseases written by Georg F. Hoffmann and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-21 with Medical categories.


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.



Pocket Guide To Stress Testing


Pocket Guide To Stress Testing
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Author : Dennis A. Tighe
language : en
Publisher: John Wiley & Sons
Release Date : 2019-09-16

Pocket Guide To Stress Testing written by Dennis A. Tighe and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-16 with Medical categories.


The go-to handbook for those performing and analysing cardiac stress tests The stress test is key to the clinical evaluation and management of patients with known or potential cardiovascular disease. By measuring the heart's ability to respond to external stress, it can provide vital insights into the general physical condition of patients, highlighting abnormalities in blood flow, risk of coronary artery disease, and more. The Pocket Guide to Stress Testing gives cardiology professionals a complete breakdown of this everyday procedure that they can carry with them and consult on the go. This second edition has been fully revised to reflect the most up-to-date information available on the best approaches to conducting and interpreting various forms of stress test. With chapters spanning topics such as testing guidelines, nuclear imaging techniques, and emergency and aftercare protocols, the clear and practical contents cover all aspects of the subject. This essential new text includes: A complete overview of exercise stress testing, covering indications, protocols, preparation, and interpretation Guidelines for the standard treadmill test, as well as for the various pharmacological stress tests for patients unable to complete an exercise ECG test An extensive list of references and reading suggestions to help trainees to expand their knowledge End-of-chapter summaries and new tables and illustrations As the field of cardiology continues to change and develop apace, this new edition of The Pocket Guide to Stress Testing provides physicians, trainee cardiologists, and cardiac nurses with a reliable, up-to-date resource for use in everyday practice.



Accurate Results In The Clinical Laboratory


Accurate Results In The Clinical Laboratory
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Author : Amitava Dasgupta
language : en
Publisher: Elsevier
Release Date : 2019-07-20

Accurate Results In The Clinical Laboratory written by Amitava Dasgupta and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-07-20 with Science categories.


Accurate Results in the Clinical Laboratory: A Guide to Error Detection and Correction, Second Edition, provides a comprehensive review of the factors leading to errors in all areas of clinical laboratory testing. This trusted guide addresses interference issues in all laboratory tests, including patient epigenetics, processes of specimen collection, enzymes and biomarkers. Clinicians and laboratory scientists will both benefit from this reference that applies discussions to both accurate specimen analysis and optimal patient care. Hence, this is the perfect reference for clinical laboratorians, from trainees, to experienced pathologists and directors. - Provides comprehensive coverage across endocrine, oncology, hematology, immunohistochemistry, immunology, serology, microbiology, and molecular testing - Includes new case studies that highlight clinical relevance and errors to avoid - Highlights the best titles published within a variety of medical specialties - Reviewed by medical librarians and content specialists, with key selections compiled in their annual list



Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases


Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer Nature
Release Date : 2022-02-21

Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases written by Nenad Blau and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-02-21 with Medical categories.


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



A Clinical Guide To Inherited Metabolic Diseases


A Clinical Guide To Inherited Metabolic Diseases
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Author : Joe T. R. Clarke
language : en
Publisher: Cambridge University Press
Release Date : 2005-12-08

A Clinical Guide To Inherited Metabolic Diseases written by Joe T. R. Clarke and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-12-08 with Medical categories.


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.



Inherited Metabolic Disease In Adults


Inherited Metabolic Disease In Adults
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Author : Carla E. M. Hollak
language : en
Publisher: Oxford University Press
Release Date : 2016-07-19

Inherited Metabolic Disease In Adults written by Carla E. M. Hollak and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-07-19 with Medical categories.


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.