Inherited Disorders of Carbohydrate Metabolism: Monograph based upon Proceedings of the Sixteenth Symposium of The Society for the Study of Inborn Errors of Metabolism
Editat de D. Burman, J.B. Holtonen Limba Engleză Paperback – 15 oct 2011
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Specificații
ISBN-13: 9789400992177
ISBN-10: 9400992173
Pagini: 452
Ilustrații: 433 p.
Dimensiuni: 155 x 235 x 24 mm
Greutate: 0.63 kg
Ediția:1980
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
ISBN-10: 9400992173
Pagini: 452
Ilustrații: 433 p.
Dimensiuni: 155 x 235 x 24 mm
Greutate: 0.63 kg
Ediția:1980
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
Public țintă
ResearchCuprins
Section One Introduction.- 1 Carbohydrate metabolism and its regulation — The Milner Lecture.- Section Two Disorders of Carbohydrate Absorption.- 2 Basic causes of carbohydrate malabsorption.- 3 Clinical aspects of disordered carbohydrate absorption.- Section Three Disorders of Galactose Metabolism.- 4 Galactose metabolism, hereditary defects and their clinical significance.- 5 Clinical aspects of Galactosaemia.- 6 How long should galactosaemia be treated?.- 7 Pregnancy in classical galactosaemia.- 8 Screening for galactosaemia.- 9 Prenatal diagnosis of classical galactosaemia.- 10 Discussion.- Section Four Disorders of Fructose Metabolism.- 11 Clinical and genetic studies of disorders in fructose metabolism.- 12 Pathogenic mechanisms of disorders in fructose metabolism.- 13 Discussion.- Section Five Disorders of Pyruvate Metabolism.- 14 Pathways and regulation of pyruvate metabolism.- 15 Pyruvate dehydrogenase deficiencies.- 16 Pyruvate carboxylase deficiency, studies on patients and on an animal model system.- Section Six Glycogen Storage Diseases.- 17 Recent advances and problems in the glycogen storage diseases.- 18 Hepatic glycogenosis: diagnosis and management — The F. P. Hudson Memorial Lecture.- 19 Recent work on treatment of Type I glycogen storage disease.- 20 Pre- and postnatal diagnosis of glycogen storage disease.- 21 Type VI glycogenosis: identification of subgroups.- 22 Discussion.- Section Seven Genetic Aspects of Diabetes.- 23 Clinical studies of the inheritance of diabetes mellitus.- 24 HLA antigens and diabetes.- 25 Juvenile diabetes and optic atrophy.- 26 Discussion.