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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.
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Previews available in: English
Edition | Availability |
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Inborn Metabolic Diseases: Diagnosis and Treatment
October 19, 2006, Springer
Hardcover
in English
- 4th, rev. ed. edition
3540287833 9783540287834
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Book Details
First Sentence
"Inborn errors of metabolism (IEM) are individually rare, but collectively numerous."
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