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Batten Disease : Diagnosis, Treatment, and Research /
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, sp...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
San Diego :
Academic Press,
2001.
|
| Colección: | Advances in genetics ;
v. 45. |
| Temas: | |
| Acceso en línea: | Texto completo Texto completo |
MARC
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| 245 | 0 | 0 | |a Batten Disease : |b Diagnosis, Treatment, and Research / |c edited by Krystyna E. Wisniewski, Nanbert Zhong. |
| 264 | 1 | |a San Diego : |b Academic Press, |c 2001. | |
| 300 | |a 1 online resource (xiii, 243 pages) : |b illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a Advances in genetics ; |v v. 45 | |
| 546 | |a Text in English. | ||
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a 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. | |
| 588 | 0 | |a Print version record. | |
| 520 | |a 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. | ||
| 650 | 0 | |a Neuronal ceroid-lipofuscinoses. | |
| 650 | 1 | 2 | |a Neuronal Ceroid-Lipofuscinoses |0 (DNLM)D009472 |
| 650 | 2 | 2 | |a Neuronal Ceroid-Lipofuscinoses |x genetics |0 (DNLM)D009472Q000235 |
| 650 | 6 | |a C�ero�ide lipofuscinose neuronale. |0 (CaQQLa)201-0017787 | |
| 650 | 7 | |a HEALTH & FITNESS |x Diseases |x Alzheimer's & Dementia. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Neurology. |2 bisacsh | |
| 650 | 7 | |a Neuronal ceroid-lipofuscinoses |2 fast |0 (OCoLC)fst01036435 | |
| 650 | 1 | 7 | |a Genetica. |2 gtt |
| 700 | 1 | |a Wisniewski, K. E. |q (Krystyna E.), |e editor. | |
| 700 | 1 | |a Zhong, Nanbert, |e editor. | |
| 776 | 0 | 8 | |i Print version: |t Batten disease. |d San Diego : Academic Press, �2001 |z 0120176459 |z 9780120176458 |w (DLC) 2002280211 |w (OCoLC)46848769 |
| 830 | 0 | |a Advances in genetics ; |v v. 45. | |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780120176458 |z Texto completo |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/bookseries/00652660/45 |z Texto completo |