The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid's unique perspectives on the pathology of genetic disorders and Lew's unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

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Yes, you can access Metabolic Diseases by E. Gilbert-Barness,L.A. Barness,P.M. Farrell,Enid Gilbert-Barness,Lewis A. Barness in PDF and/or ePUB format, as well as other popular books in Medicine & Pediatric Medicine. We have over one million books available in our catalogue for you to explore.

Information

Publisher

SAGE Publications Ltd

Year

2017

Print ISBN

9781614997177

eBook ISBN

9781614997184

Edition

Topic

Medicine

Subtopic

Pediatric Medicine

Title Page
Preface
Foreword
About the Editors
Contents
Chapter 1: Approach to Diagnosis of Metabolic Diseases
Chapter 2: Prenatal Diagnosis and Newborn Screening
Chapter 3: Disorders of Amino Acid Metabolism
Chapter 4: Disorders of Branched Chain Amino Acid Metabolism
Chapter 5: Defects of the Urea Cycle
Chapter 6: Fatty Acid Beta-Oxidation Defects
Chapter 7: Mitochondrial Myopathies and Disorders
Chapter 8: Glycogen Storage Diseases: Diagnosis, Treatment and Outcome
Chapter 9: Mucopolysaccharidoses
Chapter 10: Oligosaccharidoses and Allied Disorders
Chapter 11: Disorders of Sterol Biosynthesis
Chapter 12: Lysosomal Storage Diseases
Chapter 13: Disorders of Nucleotide Metabolism: Purines and Pyrimidines
Chapter 14: Disorders of Metal Metabolism
Chapter 15: Neuronal Ceroid-Lipofuscinoses
Chapter 16: Cystic Fibrosis
Chapter 17: The Porphyrias
Chapter 18: Inherited Intrahepatic Cholestatic Disorders and Disorders of Bilirubin Metabolism
Chapter 19: Genetic and Metabolic Disorders of the Endocrine System
Chapter 20: Metabolic Cardiomyopathies
Chapter 21: Molecular Disorders of Red Blood Cells, Platelets, and Coagulation System
Chapter 22: Genetic Disorders of the Renal Tubule
Chapter 23: Genetic Disorders of Calcium, Phosphorus, and Bone Homeostasis
Chapter 24: Peroxisome Biogenesis Disorders
Chapter 25: Neuromuscular Disorders
Chapter 26: Gene Therapy for Metabolic Diseases
Appendix I: Newborn Screening Panel: Core Panel and Secondary Targets
Appendix II: The Metabolic Disease Autopsy
Appendix III: Laboratories Performing Specialized Studies
Subject Index
Author Index

About this book

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Information

Table of contents