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101 0 $aeng
135   $aur|n|---|||||
181   $ctxt
182   $cc
183   $acr
200 00$aLeukodystrophies$b[electronic resource] /$fedited by Gerald V. Raymond ... [et al.]
210   $aLondon $cMac Keith Press$d2011
215   $a1 online resource (249 p.)
225 1 $aInternational review of child neurology series
300   $aDescription based upon print version of record.
311   $a1-907655-09-3 
320   $aIncludes bibliographical references and index.
327   $a""CONTENTS""; ""AUTHORSa??? APPOINTMENTS""; ""FOREWORD""; ""1 LEUKODYSTROPHY AND MYELIN""; ""Introduction""; ""Definition of leukodystrophies""; ""2 MYELINATION IN HEALTH AND DISEASE""; ""Introduction""; ""Oligodendrocytes have a highly polarized shape""; ""Molecular composition of myelin and oligodendrocyte membranes""; ""Molecular mechanisms of myelin membrane formation""; ""Reciprocal interactions between axons and oligodendrocytes""; ""Summary and conclusions""; ""3 THE ROLE OF ASTROCYTES IN WHITE MATTER DISEASE""; ""Introduction""; ""Cellular lineage systems in the mammalian brain""
327   $a""Astrocytes in development and adult life""""Leukodystrophies with distinct astrocyte pathology""; ""Possible mechanisms of white matter damage secondary to astrocyte dysfunction""; ""Summary and future perspectives""; ""4 MICROGLIA AND LEUKODYSTROPHIES""; ""Introduction""; ""Macrophage populations in the central nervous system""; ""Defining microglial activation""; ""Microglia in development and repair""; ""Brain colonization, self-renewal, and post-lesional recruitment of microglia""; ""Microglia in the pathogenesis of leukodystrophies""; ""Adrenoleukodystrophy""
327   $a""Does VLCFA accumulation cause microglial activation?""""How does microglial activation relate to demyelination in adrenoleukodystrophy?""; ""Metachromatic leukodystrophy""; ""Microglia in globoid cell leukodystrophy (Krabbe disease)""; ""The role of microglia in transplantation""; ""Concluding remarks""; ""5 X-LINKED ADRENOLEUKODYSTROPHY""; ""Introduction""; ""Biochemical and molecular basis""; ""Clinical features""; ""Diagnosis""; ""Animal models""; ""Pathogenesis""; ""Therapy in adrenoleukodystrophy""; ""Expanded screening for asymptomatic individuals""
327   $a""6 KRABBE DISEASE (GLOBOID CELL LEUKODYSTROPHY)""""Introduction""; ""Clinical features""; ""Diagnostic evaluation""; ""Pathological findings""; ""Biochemical findings""; ""Molecular genetics""; ""Newborn screening""; ""Studies in animal models""; ""Therapy""; ""Conclusions""; ""7 ALEXANDER DISEASE""; ""Introduction""; ""Clinical presentation""; ""MRI characteristics""; ""Pathology""; ""Diagnosis""; ""GFAP mutations""; ""Cases without GFAP mutations""; ""Recent cases""; ""Disease mechanisms""; ""Treatment""; ""Concluding remarks""; ""8 METACHROMATIC LEUKODYSTROPHY""
327   $a""Classification and definition""""Incidence and prevalence""; ""Genetics""; ""Biochemical background""; ""Pathophysiology""; ""Clinical features""; ""Laboratory and genetic diagnosis""; ""Therapy""; ""9 CANAVAN DISEASE""; ""Introduction""; ""Molecular basis""; ""Clinical features""; ""Variant forms of the disease""; ""Differential diagnosis""; ""Pathogenesis and pathophysiology""; ""Prognosis""; ""Epidemiology""; ""Gene therapy""; ""Prevention""; ""10 PELIZAEUSa???MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS""; ""Involvement of myelin proteolipid protein""; ""The PLP1 gene""
327   $a""Genetics of PMD/SPG-2""
410  0$aInternational review of child neurology.
606   $aLeukodystrophy, Metachromatic
615  0$aLeukodystrophy, Metachromatic.
676   $a618.928
701   $aRaymond$b Gerald V$01485339
801  0$bMiAaPQ
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906   $aBOOK
912   $a9910779149903321
996   $aLeukodystrophies$93704424
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