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Leukodystrophies /
A comprehensive guide to the genetics, pathogenesis and treatment of the leukodystrophies: serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, ambulation, and early death.
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London :
Mac Keith Press,
2011.
|
| Colección: | International review of child neurology.
|
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 245 | 0 | 0 | |a Leukodystrophies / |c edited by Gerald V. Raymond [and others]. |
| 260 | |a London : |b Mac Keith Press, |c 2011. | ||
| 300 | |a 1 online resource (xii, 236 pages) : |b illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a International review of child neurology series | |
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a CONTENTS -- AUTHORS� 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 | |
| 505 | 8 | |a Astrocytes in development and adult lifeLeukodystrophies 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 | |
| 505 | 8 | |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 | |
| 505 | 8 | |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 | |
| 505 | 8 | |a Classification and definitionIncidence 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 PELIZAEUS�MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS -- Involvement of myelin proteolipid protein -- The PLP1 gene | |
| 520 | |a A comprehensive guide to the genetics, pathogenesis and treatment of the leukodystrophies: serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, ambulation, and early death. | ||
| 590 | |a eBooks on EBSCOhost |b EBSCO eBook Subscription Academic Collection - Worldwide | ||
| 590 | |a ProQuest Ebook Central |b Ebook Central Academic Complete | ||
| 650 | 0 | |a Metachromatic leukodystrophy. | |
| 650 | 1 | 2 | |a Hereditary Central Nervous System Demyelinating Diseases |
| 650 | 7 | |a MEDICAL |x Gynecology & Obstetrics. |2 bisacsh | |
| 650 | 7 | |a Metachromatic leukodystrophy |2 fast | |
| 700 | 1 | |a Raymond, Gerald V. | |
| 758 | |i has work: |a Leukodystrophies (Text) |1 https://id.oclc.org/worldcat/entity/E39PCYQFBvWFpVGWJGX4yXchpd |4 https://id.oclc.org/worldcat/ontology/hasWork | ||
| 776 | 0 | 8 | |i Print version: |a Raymond, V. Gerald. |t Leukodystrophies. |d London : Mac Keith Press, ©2014 |z 9781907655098 |
| 830 | 0 | |a International review of child neurology. | |
| 856 | 4 | 0 | |u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=3329169 |z Texto completo |
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