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Author:   Vernon Reid Sutton, MD (Baylor College of Medicine, Houston, TX) ,  Ayman W. El-Hattab, MD, FAAP, FACMG (Tawam Hospital, Al-Ain,<br>United Arab Emirates)
Publisher:   Elsevier - Health Sciences Division
Imprint:   Elsevier - Health Sciences Division
Volume:   65-2
Weight:   0.590kg
ISBN:  

9780323584111

ISBN 10:   032358411
Publication Date:   09 March 2018
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   Manufactured on demand  
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Table of Contents

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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