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Titlebook: Neuroacanthocytosis Syndromes; Adrian Danek Book 2005 Springer Science+Business Media B.V. 2005 attention.gene therapy.genes.genetics.koff

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发表于 2025-3-21 19:39:51 | 显示全部楼层 |阅读模式
书目名称Neuroacanthocytosis Syndromes
编辑Adrian Danek
视频video
概述Provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes
图书封面Titlebook: Neuroacanthocytosis Syndromes;  Adrian Danek Book 2005 Springer Science+Business Media B.V. 2005 attention.gene therapy.genes.genetics.koff
描述.Neuroacanthocytosis Syndromes. is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington‘s disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes..
出版日期Book 2005
关键词attention; gene therapy; genes; genetics; koffie; neurons; red blood cells
版次1
doihttps://doi.org/10.1007/1-4020-2898-9
isbn_softcover978-90-481-6743-2
isbn_ebook978-1-4020-2898-4
copyrightSpringer Science+Business Media B.V. 2005
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Acanthocytes and Disorders of Lipoprotein Metabolismntury ago to describe the dysmorphic erythrocytes seen in abetalipoproteinemia (ABL), a complex metabolic disorder that is characterised by fat malabsorption, atypical retinitis pigmentosa and spinocerebellar ataxia. ABL results from mutation in the gene encoding microsomal triglyceride transfer pro
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McLeod Syndrome: A Clinical Reviewe encoding the XK protein, a membrane transport protein of yet unknown function. Hematologically, McLeod syndrome is characterized by an absent Kx erythrocyte antigen, weak expression of Kell antigens, acanthocytosis, and compensated hemolysis. Asymptomatic male McLeod carriers have elevated serum c
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Acanthocytes in Pantothenate Kinase Associated Neurodegeneration shown to be due to mutations in the gene for pantothenate kinase 2 (.). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). . is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in pho
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Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphologyn and distribution. These morphological changes occur normally because of ultrastructural abnormalities of the erythrocyte membrane due to lipid or membrane skeleton alterations. Since genetic analyses and/or specific laboratory tests are available only for a minority of disorders associated with ac
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Differential Diagnosis of Serum Creatine Kinase Elevationated creatine kinase levels are identified. General practitioners, anesthesiologists, surgeons and neurologists might be confronted with such an unexplained non-cardiac hyperCKemia. Although this problem is not uncommon, it has been the subject of only a few studies. We provide a clinical review of
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