Inborn Metabolic Diseases
Subtitle: Diagnosis and Treatment
Contributors: John Fernandes (Editor); Jean-Marie Saudubray (Editor); Georges van den Berghe (Editor); John H. Walter (Editor)
Edition: 4th, rev. ed. edition
Publisher: Springer
Published: October 19, 2006
Language: eng
Format: Hardcover
Number of pages: 561
ISBN-13: 9783540287834
Subjects: Diseases & disorders; Neurology - General; Endocrinology & Metabolism; Science; Medical / Nursing; Science/Mathematics; Pediatrics; Life Sciences - Genetics & Genomics; Medical / Pediatrics; inborn errors of metabolism; metabolic diseases; Metabolism, Inborn errors of
First sentence: Inborn errors of metabolism (IEM) are individually rare, but collectively numerous.
Description: This book is a cohesive and authoritative work covering the fast-growing field of inborn errors of metabolism. In their preface, the editors refer readers to the latest edition of Molecular and Metabolic Bases of Inherited Disease for more detailed information. The latter book is the primary reference work in this field, but Inborn Metabolic Diseases is in many ways complementary. Clinicians working in the field, as well as those who see patients with inborn errors of metabolism less frequently, will find this book a companion. It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles.