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Table of 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.
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.