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000727504 020__ $$a9783319146218$$qelectronic book
000727504 020__ $$a3319146211$$qelectronic book
000727504 020__ $$z9783319146201
000727504 035__ $$aSP(OCoLC)ocn910845409
000727504 035__ $$aSP(OCoLC)910845409
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000727504 050_4 $$aRC627.8
000727504 08204 $$a616.39042
000727504 24500 $$aNutrition management of inherited metabolic diseases$$h[electronic resource] :$$blessons from Metabolic University /$$cLaurie E. Bernstein, Fran Rohr, Joanna R. Helm, editors.
000727504 264_1 $$aCham :$$bSpringer,$$c[2015]
000727504 300__ $$a1 online resource.
000727504 336__ $$atext$$btxt$$2rdacontent
000727504 337__ $$acomputer$$bc$$2rdamedia
000727504 338__ $$aonline resource$$bcr$$2rdacarrier
000727504 504__ $$aIncludes bibliographical references and index.
000727504 5050_ $$aBackground: 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.
000727504 506__ $$aAccess limited to authorized users.
000727504 520__ $$aThis 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.
000727504 650_0 $$aMetabolism, Inborn errors of$$xPatients$$xNutrition.
000727504 7001_ $$aBernstein, Laurie E.,$$eeditor.
000727504 7001_ $$aRohr, Fran,$$eeditor.
000727504 7001_ $$aHelm, Joanna R.,$$eeditor.
000727504 85280 $$bebk$$hSpringerLink
000727504 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-319-14621-8$$zOnline Access$$91397441.1
000727504 909CO $$ooai:library.usi.edu:727504$$pGLOBAL_SET
000727504 980__ $$aEBOOK
000727504 980__ $$aBIB
000727504 982__ $$aEbook
000727504 983__ $$aOnline
000727504 994__ $$a92$$bISE