Batten disease diagnosis, treatment, and research edited by Krystyna E. Wisniewski, Nanbert Zhong.
Series Advances in genetics ; v. 45Detalles de publicación: San Diego Academic Press c2001.Descripción: xiii, 243 p. ill. 24 cmISBN:- 0120176459
- 9780120176458
- 616.8/3 21
- RC632.N47 B38 2001
- W1
- WD 205.5.L5
| Imagen de cubierta | Tipo de ítem | Biblioteca actual | Biblioteca de origen | Colección | Ubicación en estantería | Signatura topográfica | Materiales especificados | Info Vol | URL | Copia número | Estado | Notas | Fecha de vencimiento | Código de barras | Reserva de ítems | Prioridad de la cola de reserva de ejemplar | Reservas para cursos | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Libro | Biblioteca Encarnación Valdés Colección General bev | 575.1 A244 (Navegar estantería(Abre debajo)) | v.45 | Disponible | 80000002374836 |
Descripciones mejoradas de Syndetics:
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.
Includes bibliographical references and index.
Neuronal ceroid lipofuscinoses: classification and diagnosis -- Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses -- Positional candidate gene cloning of CLN1 -- Biochemistry of neuronal ceroid lipofuscinoses -- Positional cloning of the JNCL gene, CLN3 -- Studies of homogenous populations: CLN5 and CLN8 -- Molecular genetic testing for neuronal ceroid lipofuscinoses -- Genetic counseling in the neuronal ceroid lipofuscinoses -- Neurotrophic factors as potential therapeutic agents in neuronal ceroid lipofuscinosis -- Animal models for the ceroid lipofuscinoses -- Experimental models of NCL: the yeast model -- Outlook for future treatment.
Tabla de contenidos provista por Syndetics
- Contributors
- Preface
- Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis
- Cellular Pathology and Pathogenic Aspects of Neuronal Ceroid Lipofuscinoses
- Positional Candidate Gene Cloning of CLN1S.L. Hofmann
- Biochemistry of Neuronal Ceroid Lipofuscinoses
- Positional Cloning of the JNCL Gene, CLN3
- Studies of Homogenous Populations: CLN5 and CLN8
- Molecular Genetic Testing for Neuronal Ceroid Lipofuscinoses
- Genetic Counseling in the Neuronal Ceroid Lipofuscinoses
- Neurotrophic Factors as Potential Therapeutic Agents in Neuronal Ceroid Lipofuscinoses
- Animal Models for the Ceroid Lipofuscinoses
- Experimental Models of NCL: The Yeast Model
- Outlook for Future Treatment
- Appendix: Batten Support Groups
- Index