TY  - BOOK
AU  - Gilbert-Barness,E.
AU  - Barness,L.A.
AU  - Farrell,P.M.
TI  - Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology
SN  - 9781614997184
AV  - RB147 .M483 2017 
U1  - 616.39 
PY  - 2017///
CY  - Amsterdam
PB  - IOS Press, Incorporated
KW  - Metabolism-Disorders
KW  - Electronic books
N1  - 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
UR  - https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=4790181
ER  -