Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America

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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• Medicina pediátrica