Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America
ISBN | 9780323584111 |
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Author Information | By Vernon Reid Sutton, MD, Baylor College of Medicine, Houston, TX and Ayman W. El-Hattab, MD, FAAP, FACMG, Tawam Hospital, Al-Ain, United Arab Emirates |
Table of Content | Inborn Errors of Metabolism - Table of Contents Erratum Foreword: New Understanding of Mechanisms and New Hope for Treatments Preface: Approach to Inborn Errors of Metabolism in Pediatrics Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders Newborn Screening: History, Current Status, and Future Directions |
Publication Date | 08-03-2018 |
Stock Status | In Stock |