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The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review… Read more
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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
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