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Inborn Metabolic Diseases: Diagnosis and TreatmentFrom Springer
Ebook Free Inborn Metabolic Diseases: Diagnosis and TreatmentFrom Springer
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This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
- Sales Rank: #3468926 in Books
- Published on: 2006-10-19
- Ingredients: Example Ingredients
- Original language: English
- Number of items: 1
- Dimensions: 1.06" h x 7.82" w x 10.66" l, 1.10 pounds
- Binding: Hardcover
- 561 pages
Review
"[This title] is a pleasure to read...Written by clinicians for clinicians... 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 is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)
From the Back Cover
The diagnosis of metabolic diseases is facilitated by this clinical book. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The figures illustrate the metabolic derangement in a uniform way, thus affording clarification and better understanding of the treatment. The metabolic derangement is discribed in great detail, together with essential aspects of the genetics involved. The topics covered range from general aspects such as the clinical approach to metabolic diseases, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family to specific dicussions of new modes of treatment, including liver transplantation, bone marrow transplantation, and somatic gene therapy.
Most helpful customer reviews
3 of 3 people found the following review helpful.
Necessary
By T. Feyma
This book (along with websites OMIM & GeneReviews) is part of the foundation for my approach to metabolic disease as a clinician. Useful symptom based tables that help provide an excellent differential diagnosis. Explanations with pictures help to clarify esoteric diseases and concepts. A definite must for Pediatric Neurologists.
0 of 0 people found the following review helpful.
A must have for all clinical geneticists
By Eric T Rush
This is my go-to reference for metabolic ailments to ensure that I am not missing anything. Very thorough. Lots of material on treatment, not just evaluation.
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