Nutrition Management of Inherited Metabolic Diseases Lessons from Metabolic University /

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 disea...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Άλλοι συγγραφείς: Bernstein, Laurie E. (Επιμελητής έκδοσης), Rohr, Fran (Επιμελητής έκδοσης), Helm, Joanna R. (Επιμελητής έκδοσης)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2015.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
Πίνακας περιεχομένων:
  • 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.