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001447590 019__ $$a1330690212$$a1338037204
001447590 020__ $$a9783030945107$$q(electronic bk.)
001447590 020__ $$a3030945103$$q(electronic bk.)
001447590 020__ $$z9783030945091$$q(print)
001447590 020__ $$z303094509X
001447590 0247_ $$a10.1007/978-3-030-94510-7$$2doi
001447590 035__ $$aSP(OCoLC)1330936251
001447590 040__ $$aEBLCP$$beng$$epn$$cEBLCP$$dGW5XE$$dYDX$$dEBLCP$$dOCLCF$$dN$T$$dOCLCQ
001447590 049__ $$aISEA
001447590 050_4 $$aRC627.8
001447590 08204 $$a616.39042$$223/eng/20220629
001447590 24500 $$aNutrition management of inherited metabolic diseases :$$blessons from Metabolic University /$$cLaurie E. Bernstein, Fran Rohr, Sandy van Calcar, editors.
001447590 250__ $$a2nd ed.
001447590 260__ $$aCham :$$bSpringer,$$c2022.
001447590 300__ $$a1 online resource (415 pages)
001447590 336__ $$atext$$btxt$$2rdacontent
001447590 337__ $$acomputer$$bc$$2rdamedia
001447590 338__ $$aonline resource$$bcr$$2rdacarrier
001447590 500__ $$aIncludes index.
001447590 5050_ $$aBackground: Introduction to Genetics -- Expanded Newborn Screening for Inherited Metabolic Diseases -- Nutrition Education -- Pathophysiology of Inherited Metabolic Disease -- Metabolic Intoxication Syndrome in a Newborn -- Anabolism: Practical Strategies -- Protein Requirements in Inherited Metabolic Diseases -- Laboratory Evaluations in Inherited Metabolic Diseases. Aminoacidopathies: Phenyketonuria: Phenylalanine Neurotoxicity -- Phenylketonuria: The Diet Basics -- Understanding Large Neutral Amino Acids and the Blood Brain Barrier -- Tetrahydrobiopterin Therapy in Phenylketonuria -- Maternal Phenylketonuria -- Homocystinuria: Diagnosis and Management -- Nutrition Management of Urea Cycle Disorders -- Nutrition Management of Maple Syrup Urine Disease. Organic Acidemias: Organic Acidemias -- Glutaric Acidemia Type 1: Diagnosis and Management -- Nutrition Management of Glutaric Acidemia Type 1 -- Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia -- Nutrition Management during Pregnancy: Maple Syrup Urine Disease, Propionic Acidemia and Urea Cycle Disorders. Fatty Acid Oxidation Disorders: Fatty Acid Oxidation Disorders -- Nutrition Studies in Long Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring -- Nutrition Management of Fatty Acid Oxidation Disorders. Disorders of Carbohydrate Metabolism: Nutrition Management of Galactosemia -- Glycogen Storage Disease -- Nutrition Management of Glycogen Storage Disease Type 1.
001447590 506__ $$aAccess limited to authorized users.
001447590 520__ $$aThis text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are also addressed. In addition, current medical management therapies is included.
001447590 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed June 29, 2022).
001447590 650_0 $$aMetabolism, Inborn errors of$$xPatients$$xNutrition.
001447590 650_0 $$aMetabolism, Inborn errors of.
001447590 655_0 $$aElectronic books.
001447590 7001_ $$aBernstein, Laurie E.
001447590 7001_ $$aRohr, Fran.
001447590 7001_ $$aCalcar, Sandy van.
001447590 77608 $$iPrint version:$$aBernstein, Laurie E.$$tNutrition Management of Inherited Metabolic Diseases.$$dCham : Springer International Publishing AG, ©2022$$z9783030945091
001447590 852__ $$bebk
001447590 85640 $$3Springer Nature$$uhttps://univsouthin.idm.oclc.org/login?url=https://link.springer.com/10.1007/978-3-030-94510-7$$zOnline Access$$91397441.1
001447590 909CO $$ooai:library.usi.edu:1447590$$pGLOBAL_SET
001447590 980__ $$aBIB
001447590 980__ $$aEBOOK
001447590 982__ $$aEbook
001447590 983__ $$aOnline
001447590 994__ $$a92$$bISE