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140122 ||| eng |
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|a 9789400992153
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| 100 |
1 |
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|a Burman, D.
|e [editor]
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| 245 |
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|a Inherited Disorders of Carbohydrate Metabolism
|h Elektronische Ressource
|b Monograph based upon Proceedings of the Sixteenth Symposium of The Society for the Study of Inborn Errors of Metabolism
|c edited by D. Burman, J.B. Holton
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| 250 |
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|a 1st ed. 1980
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| 260 |
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|a Dordrecht
|b Springer Netherlands
|c 1980, 1980
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| 300 |
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|a 433 p
|b online resource
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| 505 |
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|a 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
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| 653 |
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|a Internal medicine
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| 653 |
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|a Internal Medicine
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| 653 |
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|a Pediatrics
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| 700 |
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|a Holton, J.B.
|e [editor]
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| 041 |
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7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b SBA
|a Springer Book Archives -2004
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| 028 |
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|a 10.1007/978-94-009-9215-3
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| 856 |
4 |
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|u https://doi.org/10.1007/978-94-009-9215-3?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
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|a 618.92
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| 520 |
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|a The sixteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism was held in Bristol from 12th to 14th July, 1978. About 25 invited speakers and 150 participants came from many parts of Europe and North America to consider the topic, 'Inherited Disorders of Carbohydrate Metabolism'. Although some aspects of these disorders have formed part of the programme of previous symposia organized by the Socie ty, this was the first attempt to discuss them in a systematic manner. The subject, carbohydrate disorders, embraces both familiar and well documented conditions and some lesser known aspects of genetic disease. In all of these there remains much to be learnt about clinical and laboratory diagnosis, treatment, biochemical screening and pathogenesis. Thus one aim of the Society, to combine clinical and scientific interest, can rarely have been better achieved in a single symposium. Since the programme included diseases from six different areas of car bohydrate metabolism and contained so many distinguished speakers, it is impossible to highlight the more important aspects of this symposium within a short space. Each section made a notable contribution to knowledge and, when time was available, lively discussions ensued which have been recorded in the book. However, we wish to mention our two special lectures, because they recognise people to whom the Society owes a great deal. The Milner lecture has been given for the past 6 years as a tribute to Mr J.
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