Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases PDF Download

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:
Publisher:
ISBN:
Category : Metabolism, Inborn errors of
Languages : en
Pages : 508

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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: Nenad Blau
Publisher: Springer Nature
ISBN: 3030677273
Category : Medical
Languages : en
Pages : 1514

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Book Description
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

Author: Joe T. R. Clarke
Publisher: Cambridge University Press
ISBN: 1139447181
Category : Medical
Languages : en
Pages : 360

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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: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380

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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: Robert F. Dons
Publisher: CRC Press
ISBN: 1420079360
Category : Medical
Languages : en
Pages : 612

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Book Description
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

Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540289623
Category : Medical
Languages : en
Pages : 404

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Book Description
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: Patricia Jones
Publisher: Academic Press
ISBN: 0128169265
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: Brigitte Wildemann
Publisher: Thieme
ISBN: 3132579068
Category : Medical
Languages : en
Pages : 624

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Book Description
A practice-oriented reference for the laboratory diagnosis of neurologic diseases Up-to-date, comprehensive, and beautifully illustrated, Laboratory Diagnosis in Neurology presents all the measuring parameters and methods relevant to the analysis of cerebrospinal fluid, serum, and tissues affected by neurologic disease and syndromes. Following an introduction to basic concepts, the book guides clinicians through the methods of CSF analysis, neurochemical examinations, clinical applications of neuroimmunology, microbiology and virology, neurogenetic tests, and evaluation of biopsies. Readers will learn about the equipment and various procedures, and how to effectively differentiate similar methods. In the final section of the book, the authors provide a systematic introduction to the pathophysiology and laboratory findings for specific clinical disorders, indications for particular test methods, and criteria for diagnostic interpretation. Key features: Clear presentation of pearls, pitfalls, and practical tips in blue boxes for at-a-glance review Contributions by neurologists, psychiatrists with experience in laboratory analysis, clinical chemists, and neurochemists More than 140 high-quality illustrations, mostly in full color, demonstrating common findings Appendix with basic rules for interpreting disease-specific patterns, recommendations for quality control, and a list of the most important reference values An indispensable tool for neurologists, laboratory physicians, and pathologists, this book is also a valuable reference for neurosurgeons, internists, and psychiatrists.