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The neuronal ceroid lipofuscinoses (Batten disease) /

The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis patient care, and new treatments that are availa...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Mole, S. E. (Sara E.), Williams, R. E. (Ruth E.), 1961-, Goebel, H.-H
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Oxford : Oxford University Press, 2011.
Edición:Second edition.
Colección:Contemporary neurology series.
Temas:
Acceso en línea:Texto completo
Tabla de Contenidos:
  • NCLS: evolution of the concept and classification
  • NCL nomenclature and classification
  • NCL diagnosis and algorithms
  • Morphological diagnostic and pathological consideration
  • General principle of medical management
  • CLN1
  • CLN2
  • CLN3
  • CLN5
  • CLN6
  • CLN7
  • CLN8
  • CLN10
  • Genetically unassigned or unusual NCLS
  • Unicellular models
  • Simple animal models
  • Small animal models
  • Large animal models
  • Evoluationary conservation of NCL proteins
  • Mutations in NCL genes
  • Therapeutic strategies
  • Outlook into the next decade.