Neurodystrophies and neurolipidoses
著者
書誌事項
Neurodystrophies and neurolipidoses
（Handbook of clinical neurology, revised series 22 = v. 66）
Elsevier Science, c1996
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
The present revised work, designed initially to update and expand as necessary the subject area covered by the corresponding original volume, charts the progress achieved in this rapidly advancing field during the intervening 26 years. It should be consulted in conjunction with "Leukodystrophies and Poliodystrophies", which includes superb clinical and morphological data that have stood the test of time. Two aspects still central are: the four levels of sophistication in the elucidation of a metabolic error; and the blurring of lines of distinction between disease processes.
目次
Foreword. List of contributors. 1. A neuropathologic overview of the neurodystrophies and neurolipidoses (J.M. Powers). 2. Biochemistry of lipids (P. Morell, A.D. Toews). 3. Enzymology (I. Mononen). 4. Molecular biology (S. Byravan, A.T. Campagnoni). 5. Bone marrow transplantation treatment for globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, and Hurler syndrome (W. Krivit,E.G. Shapiro, L.A. Lockman, M. Balthazor, J. Wagner, C. Peters, J. Anderson, D. Loes). 6. Metabolic manipulation therapy of the neurolipidoses (G. Grabowski, N.D. Leslie). 7. Prospects for gene therapy in the lysosomal storage disorders (E.M. Kaye). 8. Gaucher disease (R.O. Brady). 9. Niemann-Pick diseases (M.T. Vanier, K. Suzuki). 10. Metachromatic leukodystrophies (M. Philippart). 11. Globoid leukodystrophy (E.H. Kolodny). 12. Farber disease (lipogranulomatosis) (H.W. Moser). 13. Fabry disease: -galactosidase A deficiency (C.M. Eng, R.J. Desnick). 14. The gangliosidoses (K. Suzuki, K. Suzuki). 15. The mucopolysaccharidoses (C.B. Whitley). 16. The oligosaccharidoses: mannosidosis, fucosidosis and aspartylglucosaminuria (G. Dawson). 17. Schindler disease: deficient -N-acetylgalactosaminidase activity (R.J. Desnick, D. Schindler). 18. Sialidoses (W.A. Gahl, D.M. Krasnewich, J.C. Williams). 19. The mucolipidoses (including I-cell disease)(J.G. Leroy). 20. Mitochondrial disorders (D.C. De Vivo, M. Hirano, S. DiMauro). 21. X-linked adrenoleukodystrophy (P. Aubourg). 22. Heredopathia atactica polyneuritiformis (Refsum's disease) (O.H. Skjeldal). 23. Generalized peroxisomal disorders and disorders of peroxisomal fatty acid oxidation (R.J.A. Wanders, H.S.A. Heymans, R.B.H. Schutgens, P.G. Barth). 24. Rhizomelic chondrodysplasia punctata (H.S.A. Heymans, R.J.A. Wanders). 25. Disorders of lipoprotein metabolism (S.D. Kafonek, H.W. Moser). 26. Pelizaeus-Merzbacher disease (F. Seitelberger, S. Urbanits, K.-A. Nave). 27. Smith-Lemli-Opitz syndrome (R.I. Kelley). 28. Cerebrotendinous xanthomatosis (A. Federico, M.T. Dotti). 29. Sjoegren-Larsson syndrome (W.B. Rizzo). 30. Carbohydrate-deficient glycoprotein syndromes (B.A. Hagberg, G. Blennow, B. Kristiansson, H. Stibler). 31. Disorders of organic acid metabolism (G.F. Hoffmann, K.M. Gibson). 32. Canavan disease (R. Matalon, K. Michals, R. Kaul). 33. Batten disease or neuronal ceroid lipofuscinosis (R.-M. Boustany). 34. Alexander disease (A.B. Johnson). 35. Hallervorden-Spatz syndrome (K.F. Swaiman). 36. Leukoencephalopathies due to exogenous factors with features of leukodystrophy: central nervous system damage caused by exposure to solvent vapors (toluene) (M. Kornfeld). Index.
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