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Atlas of Inherited Metabolic Diseases
- Publication Year:
- 2020
- Edition:
- 4th
- Author:
- Nyhan, William L.; Hoffmann, Georg F.
- Publisher:
- CRC Press
- ISBN:
- 978-1-13-819659-9
- Doody Core Title Score:
-
- 2.2 (Clinical Genetics) Doodys Essential Title
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Description
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.
The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Key Features
The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Key Features
- Fully updated to incorporate all new developments in the field
- Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others
- Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management
- Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability
Details
- Platform:
- OvidSP
- Publisher:
- CRC Press
- Product Type:
- Book
- Author:
- Nyhan, William L.; Hoffmann, Georg F.
- ISBN:
- 978-1-13-819659-9
- Specialty:
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- Endocrinology & Metabolism
- Internal Medicine
- Language:
- English
- Edition:
- 4th
- Pages:
- 870
- Publication Year:
- 2020
- Doody Core Title Score:
-
- 2.2 (Clinical Genetics) Doodys Essential Title