Catalogue


Neurology of hereditary metabolic diseases of children /
Gilles Lyon, Edwin H. Kolodny, Gregory M. Pastores.
edition
3rd ed.
imprint
New York : McGraw-Hill, Medical Pub. Division, 2006.
description
x, 542 p. : ill.
ISBN
0071445080 (alk. paper), 9780071445085 (alk. paper)
format(s)
Book
Holdings
More Details
author
imprint
New York : McGraw-Hill, Medical Pub. Division, 2006.
isbn
0071445080 (alk. paper)
9780071445085 (alk. paper)
catalogue key
6023103
 
Includes bibliographical references and index.
A Look Inside
Summaries
Unpaid Annotation
Treatment Options for Your Most Challenging Cases!Organized by age groups from neonate to late childhood, each chapter in Neurology of Hereditary Metabolic Diseases of Children, 3e begins by describing symptoms of a neuro-genetic disorder and then guides you through confirming the diagnosis and choosing the appropriate therapy. This is the only book of its kind dealing with these difficult, often baffling group of diseases.
Main Description
The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in childrenWritten in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy.Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike.New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups
Main Description
Audience: Neuro-Pediatricians; Neurologists; Pediatricians The latest information on screening Offers a clinical, step-by-step approach to diagnosis and treatment New Third Edition reflects the significant advances made following the discovery of the DNA sequence of the human genome Helps you understand the complicated genetics and biochemistry of these illnesses
Main Description
The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups
Bowker Data Service Summary
Organised by age groups from neonate to late childhood, each chapter begins by describing symptoms of a neuro-genetic disorder and then guides you through confirming the diagnosis and choosing the appropriate therapy.
Table of Contents
General Aspects of Hereditary Metabolic Diseases of the Nervous System
The Neurology of Neonatal Hereditary Metabolic Diseases
Early Infantile Progressive Metabolic Encephalopathies: Clinical Problems and Diagnostic Considerations
Late Infantile Progressive Genetic Encephalopathies:(Metabolic Encephalopathies of the Second Year of Life)
Childhood and Adolescent Hereditary Metabolic Disorders
Distinction Between Hereditary Metabolic Diseases and Other Diseases of the Child's Nervous System
Visceral and Other Tissue Abnormalities Associated with Hereditary Metabolic Encephalopathies
Laboratory Tests for the Diagnosis of Hereditary Metabolic Encephalopathies
Treatment and Prevention of Neurometabolic Disorders
Table of Contents provided by Publisher. All Rights Reserved.

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