Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce t...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2013
|
| In: |
Orphanet journal of rare diseases
Year: 2013, Jahrgang: 8, Pages: 1-11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-8-35 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-8-35 Verlag, kostenfrei, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-35 
|
| Verfasserangaben: | Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S. Ory, Eugen Mengel, Christine Fischer and Heiko Runz |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1789590302 | ||
| 003 | DE-627 | ||
| 005 | 20230426075800.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 220215s2013 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/1750-1172-8-35 |2 doi | |
| 035 | |a (DE-627)1789590302 | ||
| 035 | |a (DE-599)KXP1789590302 | ||
| 035 | |a (OCoLC)1341441738 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Stampfer, Miriam |d 1985- |e VerfasserIn |0 (DE-588)1058893254 |0 (DE-627)797720537 |0 (DE-576)414972708 |4 aut | |
| 245 | 1 | 0 | |a Niemann-Pick disease type C clinical database |b cognitive and coordination deficits are early disease indicators |c Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S. Ory, Eugen Mengel, Christine Fischer and Heiko Runz |
| 264 | 1 | |c 2013 | |
| 300 | |a 11 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 15.02.2022 | ||
| 520 | |a The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce the NP-C clinical database (NPC-cdb) to systematically obtain, store and analyze diagnostic and clinical findings in patients with NP-C. We apply NPC-cdb to study NP-C temporal expression in a large German-Swiss patient cohort. | ||
| 650 | 4 | |a Cholesterol | |
| 650 | 4 | |a Clinical repository | |
| 650 | 4 | |a Genotype-phenotype | |
| 650 | 4 | |a Neurodegenerative disease | |
| 650 | 4 | |a Oxysterols | |
| 700 | 1 | |a Theiß, Susanne |e VerfasserIn |0 (DE-588)1170999131 |0 (DE-627)104034660X |0 (DE-576)512750653 |4 aut | |
| 700 | 1 | |a Amraoui, Yasmina |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jiang, Xuntian |e VerfasserIn |4 aut | |
| 700 | 1 | |a Keller, Sigrid |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ory, Daniel S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Mengel, Eugen |e VerfasserIn |4 aut | |
| 700 | 1 | |a Fischer, Christine |d 1955- |e VerfasserIn |0 (DE-588)128461993 |0 (DE-627)373010362 |0 (DE-576)297159674 |4 aut | |
| 700 | 1 | |a Runz, Heiko |d 1975- |e VerfasserIn |0 (DE-588)130149861 |0 (DE-627)49250881X |0 (DE-576)298027186 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Orphanet journal of rare diseases |d London : BioMed Central, 2006 |g 8(2013), Artikel-ID 35, Seite 1-11 |h Online-Ressource |w (DE-627)50900637X |w (DE-600)2225857-7 |w (DE-576)260614424 |x 1750-1172 |7 nnas |a Niemann-Pick disease type C clinical database cognitive and coordination deficits are early disease indicators |
| 773 | 1 | 8 | |g volume:8 |g year:2013 |g elocationid:35 |g pages:1-11 |g extent:11 |a Niemann-Pick disease type C clinical database cognitive and coordination deficits are early disease indicators |
| 856 | 4 | 0 | |u https://doi.org/10.1186/1750-1172-8-35 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-35 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20220215 | ||
| 993 | |a Article | ||
| 994 | |a 2013 | ||
| 998 | |g 130149861 |a Runz, Heiko |m 130149861:Runz, Heiko |d 910000 |d 911500 |e 910000PR130149861 |e 911500PR130149861 |k 0/910000/ |k 1/910000/911500/ |p 9 |y j | ||
| 998 | |g 128461993 |a Fischer, Christine |m 128461993:Fischer, Christine |d 910000 |d 911500 |e 910000PF128461993 |e 911500PF128461993 |k 0/910000/ |k 1/910000/911500/ |p 8 | ||
| 998 | |g 1170999131 |a Theiß, Susanne |m 1170999131:Theiß, Susanne |d 50000 |e 50000PT1170999131 |k 0/50000/ |p 2 | ||
| 998 | |g 1058893254 |a Stampfer, Miriam |m 1058893254:Stampfer, Miriam |d 910000 |d 911500 |e 910000PS1058893254 |e 911500PS1058893254 |k 0/910000/ |k 1/910000/911500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1789590302 |e 405984215X | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S. Ory, Eugen Mengel, Christine Fischer and Heiko Runz"]},"origin":[{"dateIssuedDisp":"2013","dateIssuedKey":"2013"}],"recId":"1789590302","language":["eng"],"note":["Gesehen am 15.02.2022"],"person":[{"family":"Stampfer","display":"Stampfer, Miriam","role":"aut","given":"Miriam"},{"display":"Theiß, Susanne","family":"Theiß","given":"Susanne","role":"aut"},{"display":"Amraoui, Yasmina","family":"Amraoui","given":"Yasmina","role":"aut"},{"display":"Jiang, Xuntian","family":"Jiang","given":"Xuntian","role":"aut"},{"role":"aut","given":"Sigrid","family":"Keller","display":"Keller, Sigrid"},{"family":"Ory","display":"Ory, Daniel S.","role":"aut","given":"Daniel S."},{"given":"Eugen","role":"aut","display":"Mengel, Eugen","family":"Mengel"},{"role":"aut","given":"Christine","family":"Fischer","display":"Fischer, Christine"},{"display":"Runz, Heiko","family":"Runz","given":"Heiko","role":"aut"}],"relHost":[{"note":["Gesehen am 01.09.10"],"part":{"text":"8(2013), Artikel-ID 35, Seite 1-11","year":"2013","volume":"8","pages":"1-11","extent":"11"},"language":["eng"],"recId":"50900637X","origin":[{"dateIssuedKey":"2006","publisher":"BioMed Central","dateIssuedDisp":"2006-","publisherPlace":"London"}],"disp":"Niemann-Pick disease type C clinical database cognitive and coordination deficits are early disease indicatorsOrphanet journal of rare diseases","pubHistory":["1.2006 -"],"id":{"zdb":["2225857-7"],"eki":["50900637X"],"issn":["1750-1172"]},"title":[{"title_sort":"Orphanet journal of rare diseases","title":"Orphanet journal of rare diseases","subtitle":"OJRD"}],"physDesc":[{"extent":"Online-Ressource"}],"type":{"media":"Online-Ressource","bibl":"periodical"}}],"physDesc":[{"extent":"11 S."}],"title":[{"title":"Niemann-Pick disease type C clinical database","title_sort":"Niemann-Pick disease type C clinical database","subtitle":"cognitive and coordination deficits are early disease indicators"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"id":{"doi":["10.1186/1750-1172-8-35"],"eki":["1789590302"]}} | ||
| SRT | |a STAMPFERMINIEMANNPIC2013 | ||