Vernon Reid Sutton, Ayman W. El-Hattab

Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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 articles on the following topics: 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 gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.

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Produktdetails

• Verlag: Elsevier HealthScience EN
• Erscheinungstermin: 22. März 2018
• Englisch
• ISBN-13: 9780323584128
• Artikelnr.: 62286271

Inhaltsangabe

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