The Neuronal Ceroid Lipofuscinoses Batten Disease 2nd Edition by Sara Mole, Ruth Williams, Hans Goebel 9780199590018 019959001X
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Product details:
ISBN 10: 019959001X
ISBN 13: 9780199590018
Author: Sara E. Mole, Ruth E. Williams, Hans H. Goebel
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Table of contents:
Chapter 1: The NCLs: Evolution of the Concept and Classification
Chapter 2: NCL Nomenclature and Classification
Chapter 3: NCL Diagnosis and Algorithms
Chapter 4: Morphological Diagnostic and Pathological Considerations
Chapter 5: General Principles of Medical Management
Chapter 6: CLN1
Chapter 7: CLN2
Chapter 8: CLN3
Chapter 9: CLN5
Chapter 10: CLN6
Chapter 11: CLN7
Chapter 12: CLN8
Chapter 13: CLN10
Chapter 14: Genetically Unassigned or Unusual NCLs
Chapter 15: Unicellular Models
Chapter 16: Simple Animal Models
Chapter 17: Small Animal Models
Chapter 18: Large Animal Models
Chapter 19: Evolutionary Conservation of NCL Proteins
Chapter 20: Mutations in NCL Genes
Chapter 21: Therapeutic Strategies
Chapter 22: Outlook into the Next Decade
Chapter 23: Appendix 1 – NCL Incidence and Prevalence Data
Chapter 24: Appendix 2 – Useful Information
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Tags: Sara Mole, Ruth Williams, Hans Goebel, Neuronal