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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.
This book provides a comprehensive overview of inborn errors of metabolism, serving as a practical companion for clinicians. The work addresses the rapidly evolving field by briefly yet thoroughly covering a wide range of metabolic disorders, including those affecting carbohydrates, amino acids, mitochondrial energy, neurotransmitters, lipids, nucleic acids, heme, and metal transport, as well as organelle-related disorders. It is designed to complement more extensive reference works by offering concise, authoritative information for both specialists and general practitioners who encounter these conditions.
This book is presented as a cohesive and authoritative work that complements more detailed references in the field of inborn errors of metabolism. Its structure is intended to assist clinicians, whether they are specialists or see these patients less frequently. The content covers a broad spectrum of metabolic disorders, suggesting a practical and accessible approach for medical professionals.
Page Count:
561
Publication Date:
2006-01-01
ISBN-10:
3540287833
ISBN-13:
9783540287834
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