Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

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

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases PDF Author: N. Blau
Publisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732

Get Book Here

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.

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 PDF Author: Nenad Blau
Publisher: Springer
ISBN: 3642403379
Category : Medical
Languages : en
Pages : 880

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Book Description
This book, combining and updating two previous editions, 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 both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Laboratory Guide to the Methods in Biochemical Genetics

Laboratory Guide to the Methods in Biochemical Genetics PDF Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540766987
Category : Medical
Languages : en
Pages : 860

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Book Description
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

Inherited Metabolic Diseases

Inherited Metabolic Diseases PDF 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.

Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases

Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases PDF Author:
Publisher:
ISBN:
Category : Metabolism, Inborn errors of
Languages : en
Pages : 508

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Book Description


Endocrine and Metabolic Disorders

Endocrine and Metabolic Disorders PDF 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

Small Animal Clinical Diagnosis by Laboratory Methods

Small Animal Clinical Diagnosis by Laboratory Methods PDF Author: Michael D. Willard
Publisher: Elsevier Health Sciences
ISBN: 1437706584
Category : Medical
Languages : en
Pages : 434

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Book Description
A quick guide to appropriately selecting and interpreting laboratory tests, Small Animal Clinical Diagnosis by Laboratory Methods, 5th Edition helps you utilize your in-house lab or your specialty reference lab to efficiently make accurate diagnoses without running a plethora of unnecessary and low-yield tests. It provides answers to commonly asked questions relating to laboratory tests, and solutions to frequently encountered problems in small animal diagnosis. For easy reference, information is provided by clinical presentation and abnormalities, and includes hundreds of tables, boxes, key points, and algorithms. This edition, now in full color, is updated with the latest advances in laboratory testing methods and diagnostic problem solving. Written by noted educators Dr. Michael Willard and Dr. Harold Tvedten, this book may be used as an on-the-spot guide to specific problems or conditions as well as a reference for more detailed research on difficult cases. - Concise discussions address laboratory approaches to various disorders, possible conclusions from various test results, artifacts and errors in diagnoses, and interpretations leading to various diagnoses. - Hundreds of tables, boxes, algorithms, and key points offer at-a-glance information including cautions, common pitfalls, and helpful "pearls," and lead to proper differential and clinical diagnostic decision making. - Note boxes identify key considerations in correlating clinical signs with test data for accurate diagnoses, highlight safety precautions, and offer helpful tips for sample preparation and interpretation. - Chapters on laboratory diagnostic toxicology and therapeutic drug monitoring help in handling potentially fatal poisonings and other special situations. - Expert editors and contributors provide clinical knowledge and successful diagnostic problem-solving solutions. - A practical appendix lists referral laboratories that may be contacted for certain diseases, and reference values with the normal or expected range for coagulation, hematology, and more. - Updated coverage integrates the newest advances in testing methods and diagnostic problem solving. - Full-color photos and schematic drawings are placed adjacent to related text, and accurately depict diagnostic features on microscopic slide preparations as well as test procedures and techniques.

Vademecum Metabolicum

Vademecum Metabolicum PDF Author: Johannes Zschocke
Publisher: Schattauer Verlag
ISBN: 3794528166
Category : Pediatrics
Languages : en
Pages : 188

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Book Description


Laboratory Screening and Diagnostic Evaluation

Laboratory Screening and Diagnostic Evaluation PDF Author: Kelly Small Casler, DNP, APRN, FNP-BC, CHSE
Publisher: Springer Publishing Company
ISBN: 0826140939
Category : Medical
Languages : en
Pages : 1111

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Book Description
"[the authors] did a masterful job of creating and editing this gold standard book that should be used by all clinicians and incorporated into all nursing and health sciences curriculums." -Bernadette Mazurek Melnyk, PhD, APRN-CNP, FNAP, FAANP, FAAN Vice President for Health Promotion University Chief Wellness Officer Dean and Helene Fuld Health Trust Professor of Evidence-Based Practice, College of Nursing Professor of Pediatrics & Psychiatry, College of Medicine Executive Director, the Helene Fuld Health Trust National Institute for EBP The Ohio State University This is the only book to explicitly guide clinicians through an evidence-based approach to ordering and interpreting laboratory tests. With over 160 commonly ordered tests, this book is designed to foster more accurate clinical decision-making to attain the highest level of patient care. This book summarizes more than 3000 pieces of evidence and incorporates clinical expertise and decision-making on the ordering and interpretation of tests. To promote ease of use, a convenient table maps labs and their corresponding chapter numbers to the relevant body system to promote ease of use. Each laboratory test is presented in a consistent format with information on physiology, indications (screening, diagnosis, and monitoring), algorithms, test interpretation and follow-up testing, patient education, and related diagnoses. Additional valuable features include clinical pearls that highlight common pitfalls and gaps in reasoning, and a cost-benefit analysis. This book also includes CPT and ICD-10 codes, charts and tables for clarification, and references for further study. Key Features: Delivers a strong, evidence-based approach to ordering and interpreting over 160 laboratory tests Promotes accurate clinical decision-making toward achieving the Triple Aim Includes abundant clinical pearls highlighting common pitfalls and gaps in reasoning Provides cost-benefit analysis and discussion of laboratory testing within a high-value healthcare culture Includes 175 supplemental case examples and 200 self-assessment questions to facilitate instruction and learning Includes more than 3000 pieces of evidence from interprofessional resources

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases PDF 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.