| Description |
1 online resource |
| Contents |
Background: Introduction to Genetics -- Expanded Newborn Screening for Inherited Metabolic Diseases -- Nutrition Education -- Pathophysiology of Inherited Metabolic Disease -- Metabolic Intoxication Syndrome in a Newborn -- Anabolism: Practical Strategies -- Protein Requirements in Inherited Metabolic Diseases -- Laboratory Evaluations in Inherited Metabolic Diseases. Aminoacidopathies: Phenyketonuria: Phenylalanine Neurotoxicity -- Phenylketonuria: The Diet Basics -- Understanding Large Neutral Amino Acids and the Blood Brain Barrier -- Tetrahydrobiopterin Therapy in Phenylketonuria -- Maternal Phenylketonuria -- Homocystinuria: Diagnosis and Management -- Nutrition Management of Urea Cycle Disorders -- Nutrition Management of Maple Syrup Urine Disease. Organic Acidemias: Organic Acidemias -- Glutaric Acidemia Type 1: Diagnosis and Management -- Nutrition Management of Glutaric Acidemia Type 1 -- Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia -- Nutrition Management during Pregnancy: Maple Syrup Urine Disease, Propionic Acidemia and Urea Cycle Disorders. Fatty Acid Oxidation Disorders: Fatty Acid Oxidation Disorders -- Nutrition Studies in Long Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring -- Nutrition Management of Fatty Acid Oxidation Disorders. Disorders of Carbohydrate Metabolism: Nutrition Management of Galactosemia -- Glycogen Storage Disease -- Nutrition Management of Glycogen Storage Disease Type 1 |
| Summary |
This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia, and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University - an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field |
| Analysis |
stofwisselingsstoornissen |
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metabolic disorders |
|
voeding |
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nutrition |
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geneeskunde |
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medicine |
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volksgezondheid |
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public health |
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Medicine (General) |
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Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Vendor-supplied metadata |
| Subject |
Metabolism, Inborn errors of -- Patients -- Nutrition
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Metabolism, Inborn errors of.
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Metabolism, Inborn Errors
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Nutritional and Metabolic Diseases
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Biochemistry.
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Metabolism.
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Medicine
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Metabolism -- Disorders
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Nutrition
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| Form |
Electronic book
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| Author |
Bernstein, Laurie E., editor
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Rohr, Fran, editor
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Helm, Joanna R., editor
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| ISBN |
9783319146218 |
|
3319146211 |
|
3319146203 |
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9783319146201 |
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9783319146225 |
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331914622X |
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