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020 _a9783319146218
024 7 _a10.1007/978-3-319-14621-8
_2doi
050 4 _aRC627.8
_b2015 EB
082 0 4 _a616.39
245 0 0 _aNutrition Management of Inherited Metabolic Diseases :
_bLessons from Metabolic University
_cedited by Laurie E. Bernstein, Fran Rohr, Joanna R. Helm
260 _aCham, Switzerland
_bSpringer
_c2015
300 _a1 recurso en línea (XIV, 377 p.)
_b92 ilustraciones, 69 ilustraciones en color
336 _aTexto (visual)
_btxt
_2rdacontent
337 _aelectrónico
_bc
_2rdamedia
338 _arecurso electrónico
_bcr
_2rdacarrier
505 0 _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
520 3 _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
710 2 _aSpringerLink (Online service)
_0Local
_9106996
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650 7 _aEnfermedades hereditarias metabólicas
_9156016
_0comprobar BNE19997299243
_2embne
650 7 _aNutrición
_0comprobar BNE19900959014
_2embne
_9138371
700 1 _aBernstein, Laurie E.
_eeditor literario
_995139
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700 1 _aRohr, Fran
_eeditor literario
_995140
_0Local
700 1 _aHelm, Joanna R.
_eeditor literario
_0Local
_995141
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-319-14621-8
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
901 _ai9783319146218
907 _a.b12909415
_b10-10-17
_c10-02-16
988 _aSpringer_Medicine_2015
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_b27-09-17
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