Inherited Metabolic Diseases A Clinical Approach 1st Edition by Georg Hoffmann, Johannes Zschocke, William Nyhan ISBN 3540747230 9783540747239

Inherited Metabolic Diseases: A Clinical Approach 1st Edition by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan – Ebook PDF Instant Download/Delivery. 3540747230, 9783540747239

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Product details:

ISBN 10: 3540747230

ISBN 13: 9783540747239

Author:  Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan 

Inherited Metabolic Diseases: A Clinical Approach 1st Edition: 

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

 

Inherited Metabolic Diseases: A Clinical Approach 1st Edition Table of contents:

1. Introduction to Inborn Errors of Metabolism

• Disorders of Intermediary Metabolism
• Disorders of the Biosynthesis and Breakdown of Complex Molecules
• Neurotransmitter Defects and Related Disorders

2. Approach to the Patient with Metabolic Disease

• When to Suspect Metabolic Disease
• Metabolic Emergencies
• Patient Care and Treatment
• Anesthesia and Metabolic Disease

3. Organ Systems in Metabolic Disease

• Approach to the Patient with Cardiovascular Disease
• Liver Disease
• Gastrointestinal and General Abdominal Symptoms
• Kidney Disease and Electrolyte Disturbances
• Neurological Disease
• Metabolic Myopathies
• Psychiatric Disease
• Eye Disorders
• Skin and Hair Disorders
• Physical Abnormalities in Metabolic Diseases
• Hematological Disorders
• Immunological Problems

4. Investigations for Metabolic Diseases

• Newborn Screening for Inherited Metabolic Disease
• Biochemical Studies
• Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases
• DNA Studies
• Pathology — Biopsy
• Suspected Mitochondrial Disorder
• Postmortem Investigations
• Function Tests
• Family Issues, Carrier Tests, and Prenatal Diagnosis

 

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