The neuronal ceroid lipofuscinoses (Batten disease):
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Amsterdam [u.a.]
IOS Press [u.a.]
1999
|
| Series: | Biomedical and health research
33 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIV, 197 S. Ill., graph. Darst. |
| ISBN: | 9051994818 4274902870 |
Staff View
MARC
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| 245 | 1 | 0 | |a The neuronal ceroid lipofuscinoses (Batten disease) |c ed. by H. H. Goebel ... |
| 264 | 1 | |a Amsterdam [u.a.] |b IOS Press [u.a.] |c 1999 | |
| 300 | |a XIV, 197 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 490 | 1 | |a Biomedical and health research |v 33 | |
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Record in the Search Index
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| adam_text | xiii
Contents
List of Contributors v
Preface, R.M. Gardiner xi
Introduction, H.H. Goebel, S.E. Mole and B.D. Lake 1
Definitions of the Ultrastructural Patterns found in NCL, M. Elleder, B.D. Lake,
H.H Goebel, J. Rapola, M. HaltiaandS. Carpenter 5
CLN1 — Infantile and Other Types of NCL with GROD, P. Santavuori, I. Gottlob,
M. Haltia, J. Rapola, B.D. Lake, J. Tyynela andL. Peltonen 16
CLN2 — Classic Late Infantile NCL, R.E. Williams, I. Gottlob, B.D. Lake,
H.H. Goebel, B.G. Winchester andR.B. Wheeler 37
CLN3 — Juvenile NCL, /. Hofman, A. Kohlschutter, P. Santavuori, I. Gottlob,
H.H. Goebel, B.D. Lake, R.B.H. Schutgens, N.D.E. Greene, K. Y. Leung,
H.M. Mitchison, P.B. Munroe and P.E.M. Taschner 55
CLN4 — Adult NCL, J. J. Martin, I. Gottlob, H.H. Goebel and S.E. Mole 77
CLN5 — Finnish Variant Late Infantile NCL, P. Santavuori, J. Rapola, M. Haltia,
J. Tyynela, L. Peltonen and S.E. Mole 91
CLN6 — Variant Late Infantile/Early Juvenile NCL, RE. Williams, B.D. Lake,
M. Elleder and J. D. Sharp 102
CLN7 — Turkish Variant Late Infantile NCL, R.E. Williams, M. Topcu,
B.D. Lake, W. Mitchell and S.E. Mole 114
CLN8 — Northern Epilepsy, M. Haltia, J. Tyynela, A. Hirvasniemi, R. Herva,
U.S. RantaandA. E. Lehesjoki 117
NCL Variants without Genetic Assignment, A. Kohlschutter and B.D. Lake 125
NCL in Different European Countries, J. J. Martin, C. Ceuterick, M. Elleder,
J. Kraus, S. Nevsimalovd, K. Sixtovd, J. Zeman, P. Santavuori, B. Chabrol,
A. Kohlschutter, B.D. Lake, H. Christomanou, F. Cardona, N. Nardocci,
T. Kmiec, M. Pineda, M. Mila, I. Ferrer, C. Navarro, P. Uvebrant,
I. Hofman, P.E.M. Taschner, R.E. Williams, M. Topcu andM. Caliskan 128
Morphologic Diagnostic Considerations, B.D. Lake and H.H. Goebel 142
xiv
Mutations in CLN1, CLN2, CLN3 and CLN5, S. E. Mole 145
NCL Diagnostic Algorithms, R.E. Williams, A. Kohlschutter, P. Santavuori,
S.E. Mole andB.D. Lake 149
Animal Models of NCL, F. Lingaas, H.M. Mitchison, S.E. Mole, N. Koppang,
H. H. Goebel and B. D. Lake 152
European Registries on NCL, R. E. Williams and H. H. Goebel 168
Outlook into the Next Decade, R. M. Gardiner, S. E. Mole and H. H. Goebel 170
Acknowledgement 173
List of References 175
Appendix 1: NCL Support Groups and Other Useful Addresses 187
Author Index 197
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| id | DE-604.BV012897370 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:35:39Z |
| institution | BVB |
| isbn | 9051994818 4274902870 |
| language | English |
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| physical | XIV, 197 S. Ill., graph. Darst. |
| publishDate | 1999 |
| publishDateSearch | 1999 |
| publishDateSort | 1999 |
| publisher | IOS Press [u.a.] |
| record_format | marc |
| series | Biomedical and health research |
| series2 | Biomedical and health research |
| spelling | The neuronal ceroid lipofuscinoses (Batten disease) ed. by H. H. Goebel ... Amsterdam [u.a.] IOS Press [u.a.] 1999 XIV, 197 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Biomedical and health research 33 Neuronal Ceroid-Lipofuscinoses Neuronal ceroid-lipofuscinosis Myotonische Dystrophie (DE-588)4170976-7 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Myotonische Dystrophie (DE-588)4170976-7 s DE-604 Goebel, Hans Hilmar 1937- Sonstige (DE-588)10922065X oth Biomedical and health research 33 (DE-604)BV009680083 33 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008778773&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | The neuronal ceroid lipofuscinoses (Batten disease) Biomedical and health research Neuronal Ceroid-Lipofuscinoses Neuronal ceroid-lipofuscinosis Myotonische Dystrophie (DE-588)4170976-7 gnd |
| subject_GND | (DE-588)4170976-7 (DE-588)4143413-4 |
| title | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_auth | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_exact_search | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_full | The neuronal ceroid lipofuscinoses (Batten disease) ed. by H. H. Goebel ... |
| title_fullStr | The neuronal ceroid lipofuscinoses (Batten disease) ed. by H. H. Goebel ... |
| title_full_unstemmed | The neuronal ceroid lipofuscinoses (Batten disease) ed. by H. H. Goebel ... |
| title_short | The neuronal ceroid lipofuscinoses (Batten disease) |
| title_sort | the neuronal ceroid lipofuscinoses batten disease |
| topic | Neuronal Ceroid-Lipofuscinoses Neuronal ceroid-lipofuscinosis Myotonische Dystrophie (DE-588)4170976-7 gnd |
| topic_facet | Neuronal Ceroid-Lipofuscinoses Neuronal ceroid-lipofuscinosis Myotonische Dystrophie Aufsatzsammlung |
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