Batten disease : diagnosis, treatment, and research
著者
書誌事項
Batten disease : diagnosis, treatment, and research
（Advances in genetics / edited by E.W. Caspari and M. Demerec, v. 45）
Academic Press, c2001
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注記
Includes bibliographies and index
内容説明・目次
内容説明
This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.
目次
Contributors.
Preface.
Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis, K.E. Wisniewski, E. Kida, A.A. Golabek, W. Kaczmarski, F. Connell, and N. Zhong.
Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses, E. Kida, A.A. Golabek, and K.E. Wisniewski.
Positional Candidate Gene Cloning of CLN1S.L. Hofmann, A.K. Das, J.-Y. Lu, and A.A. Soyombo.
Biochemistry of Neuronal Ceroid Lipofuscinoses, M.A. Junaid and R.K. Pullarkat.
Positional Cloning of the JNCL Gene, CLN3, T.J. Lerner.
Studies of Homogenous Populations: CLN5 and CLN8, S. Ranta, M. Savukoski, P. Santavuori, and M. Haltia.
Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses, N. Zhong.
Genetic Counseling in the Neuronal Ceroid Lipofuscinoses, S.S. Brooks.
Neurotrophic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinoses, J.D. Cooper and W.C. Mobley.
Animal Models for the Ceroid Lipofuscinoses, M.L. Katz, H. Shibuya, and G.S. Johnson.
Experimental Models of NCL: The Yeast Model, D.A. Pearce.
Outlook for Future Treatment, N. Zhong and K.E. Wisniewski.
Appendix: Batten Support Groups.
Index.
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