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Titlebook: Journal of Inherited Metabolic Disease; R. A. Harkness,R. J. Pollitt,G. M. Addison Book 1991 Springer Science+Business Media Dordrecht 199

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发表于 2025-3-21 18:50:33 | 显示全部楼层 |阅读模式
书目名称Journal of Inherited Metabolic Disease
编辑R. A. Harkness,R. J. Pollitt,G. M. Addison
视频video
图书封面Titlebook: Journal of Inherited Metabolic Disease;  R. A. Harkness,R. J. Pollitt,G. M. Addison Book 1991 Springer Science+Business Media Dordrecht 199
描述The articles in Issue 4 of .Journal of Inherited MetabolicDisease., Vol. 14 (1991) contain the main lectures presented at the28th Annual Symposium of the Society for the Study of Inborn Errors ofMetabolism, Birmingham, UK, 1990, which was dedicated to `The Liverand Inherited Metabolic Disease‘ with a half-day workshop on`Screening and Economics‘. .The subjects covered include metabolic functions of the liver, bileacids, alpha-1-antitrypsin deficiency, tyrosinaemia type I,Crigler-Najjar disease type I and Niemann-Pick disease type C,providing updates on a wide range of metabolic disorders andillustrating the importance of the complementary contributions fromprofessionals in different disciplines. Also covered in detail is theexciting potential of liver transplantation as treatment for severalinborn errors of metabolism. .This state-of-the-art review will be of interest to clinicians andresearch workers alike. .
出版日期Book 1991
关键词enzymes; liver; liver disease; liver transplantation; metabolism; transplantation
版次1
doihttps://doi.org/10.1007/978-94-011-9749-6
isbn_softcover978-0-7923-8982-8
isbn_ebook978-94-011-9749-6
copyrightSpringer Science+Business Media Dordrecht 1991
The information of publication is updating

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Detoxification Pathways in the Liver,ore water-soluble metabolites which can be efficiently eliminated from the body via the urine. This protective ability of the liver stems from the expression of a wide variety of xenobiotic biotransforming enzymes whose common underlying feature is their ability to catalyse the oxidation, reduction
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Hereditary Variation of Liver Enzymes involved with Detoxification and Neurodegenerative Disease,r’s disease, Parkinson’s disease and motor neurone disease. Defects were detected in sulphur pathways and also, in the case of Parkinson’s disease, in monoamine oxidase B. The possibility exists that the ability to cope safely with endogenous and exogenous substances which have neurotoxic properties
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,α1-Antitrypsin Deficiency and Liver Disease: Clinical Presentation, Diagnosis and Treatment,mmonly identified in early infancy as a conjugated hyperbilirubinaemia with hepatitis (11%) or a bleeding state due to vitamin K malabsorption (2%). 50% of cases have cirrhosis and 25% die in the first decade of life. A further 2% present with cirrhosis in later childhood. Adult males are at risk of
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,,-Antitrypsin Deficiency and Liver Disease,n children it is associated with liver disease. Produced in the liver and released into the plasma, ..AT serves as the body’s major inhibitor of neutrophil elastase, a powerful proteolytic enzyme capable of degrading extracellular structural proteins. The pathogenesis of the liver disease associated
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Investigation of Paediatric Liver Disease,er child (over 2 years) with hepatomegaly. The approach to investigation is directed by the clinical features and employs many different investigational methods including biochemistry, haematology, radiology, electrophysiology and histology. As the clinical presentation of many diseases is similar,
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