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03201nam a22003015i 4500 |
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978-1-4020-2898-4 |
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20190620031902.0 |
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cr nn 008mamaa |
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100301s2005 ne | s |||| 0|eng d |
| 020 |
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|a 9781402028984
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| 024 |
7 |
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|a 10.1007/1-4020-2898-9
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
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|a Neuroacanthocytosis Syndromes
|c edited by Adrian Danek.
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| 250 |
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|a 1st ed. 2005.
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| 260 |
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|a Dordrecht :
|b Springer Netherlands :
|b Imprint: Springer,
|c 2005.
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| 300 |
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|a XVIII, 288 p.
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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|a Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons? -- Clinical Context -- The Differential Diagnosis of Neuroacanthocytosis: An Overview -- Acanthocytes and Disorders of Lipoprotein Metabolism -- Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review -- Chorea-Acanthocytosis with the Ehime-Deletion Mutation -- McLeod Syndrome: A Clinical Review -- Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology -- Acanthocytes in Pantothenate Kinase Associated Neurodegeneration -- Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology -- Differential Diagnosis of Serum Creatine Kinase Elevation -- Organ Involvement -- Pathology of Neuroacanthocytosis and of Huntington's Disease -- Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis -- Epilepsy in Neuroacanthocytosis -- Sleep Features in Chorea-Acanthocytosis -- Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis -- Cardiac Involvement in the Neuroacanthocytosis Syndromes -- Basic Science -- Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis? -- Erythrocyte Membrane Anion Exchange Abnormalities in Chorea-Acanthocytosis: the Band 3 Network -- The Spectrum of Mutations and Possible Function of the CHAC Gene -- Immunohematology of the Kell and KX Blood Group Systems -- C. Elegans as a Disease Model for Neuroacanthocytosis -- The Kell Blood Group Protein, its Relation to XK and its Function as an Endothelin-3-Converting Enzyme -- Endothelins as Basal Ganglia Transmitters -- Substrates for Transglutaminase-Catalyzed Cross-Linking: Relevance to Pathogenesis of Huntington's Disease and Chorea-Acanthocytosis -- Huntington's Disease Animal Models: What Lessons Can Be Learned for Research on Neuroacanthocytosis Syndromes? -- Motor Deficits as Biomarkers in Huntington's Disease: Perspectives for Neuroacanthocytosis Syndromes -- Treatment -- Treatment Options in Huntington's Disease -- Is Surgical Treatment an Option for Chorea-Acanthocytosis? -- The Potential for Gene Therapy of Neurodegenerative Disorders -- Summary -- Research Agenda in Neuroacanthocytosis.
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| 650 |
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|a Neurosciences.
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| 650 |
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|a Human genetics.
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| 650 |
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4 |
|a Neurosciences.
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| 650 |
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|a Human Genetics.
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| 700 |
1 |
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|a Danek, Adrian.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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| 856 |
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|u https://doi.org/10.1007/1-4020-2898-9
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