A Quick Guide to Metabolic Disease Testing Interpretation PDF Download
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Author: Patricia Jones
Publisher: Academic Press
ISBN: 0128169273
Category : Science
Languages : en
Pages : 220
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Book Description
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
Author: Patricia Jones
Publisher: Academic Press
ISBN: 0128169273
Category : Science
Languages : en
Pages : 220
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Book Description
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
Author: N. Blau
Publisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732
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Book Description
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.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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Book Description
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: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 386
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Book Description
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.
Author:
Publisher:
ISBN:
Category : Metabolism, Inborn errors of
Languages : en
Pages : 508
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Book Description
Author: Patricia M. Jones
Publisher: AACC Press
ISBN: 9781594251269
Category :
Languages : en
Pages : 147
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Book Description
Author: N. Blau
Publisher: CRC Press
ISBN: 9780412575600
Category : Medical
Languages : en
Pages : 544
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Book Description
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.
Author: Joe T. R. Clarke
Publisher: Cambridge : Cambridge University Press
ISBN: 9780521485241
Category : Medical
Languages : en
Pages : 280
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Book Description
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.
Author: Haseeb Ahmad Khan
Publisher: Nova Science Publishers
ISBN: 9781621002789
Category : Metabolism
Languages : en
Pages : 114
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Book Description
This book can be used as a review guide for the students preparing for exams in medical or science disciplines. The first two chapters focus on the disorders of carbohydrate metabolism and the diseases of lipids metabolism. The third chapter highlights the diseases of protein metabolism including different forms of phenylalanemia, tyrosinemia, alkaptonuria and various urea cycle disorders. The fourth chapter discusses the diseases associated with nucleic acids metabolism such as gout and Lesch-Nyhan syndrome. The last two chapters are dedicated to concise but useful information on molecular genetics and various instrumental techniques used in a clinical diagnostic laboratory. An overview of respective macromolecules metabolism is also presented at the beginning of each chapter for a better understanding of the subject.
Author: Robert F. Dons
Publisher: CRC Press
ISBN: 9781420079326
Category : Medical
Languages : en
Pages : 0
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Book Description
Bottom Line Information to Effectively Diagnose Disorders The 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, Endocrine and Metabolic Testing Manual, Fourth Edition provides an authoritative and comprehensive resource on the clinical, diagnostic, and laboratory testing for endocrine disorders. Presents Relevant ICD-9 Codes for All Procedures and Tests Written by two widely respected authorities with more than 60 years of combined experience in diagnostic endocrinology, this medical guide is organized by endocrine organ system into 12 chapters. All tests within each chapter provide accurate, brief, but adequate, information regarding indications for the test, the procedure for performing the test, instructions for how to interpret test results, suggestions for further reading, and useful ICD-9 diagnosis codes. The book is laden with tables, making the information easy to find and use. Enhanced Features of the Fourth Edition: Expanded Coverage: Includes most endocrine and metabolic disorders and the appropriate testing associated with their diagnoses Improved Organization: Uses a more standardized format for easier use Sample Calculations: Assists in calculating complex formulas with ease and accuracy Highly Informative Tables: Summarizes critical information in a reader-friendly format With detailed instruction on how to perform and interpret clinical test procedures, this practical reference is an essential resource for endocrinologists and pathologists. Newly designed and reformatted, the new edition enables quick access to complete and authoritative information about the diagnosis, screening, and management of traditional and emerging endocrine disorders.
