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

Elsevier Title
ISBN: 978-0-323-58412-8

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

By Vernon Reid Sutton, MD and Ayman W. El-Hattab, MD, FAAP, FACMG

Copyright 2018
$60.99, Online Product, Reference

A title in the The Clinics: Internal Medicine Series.

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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 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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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

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