Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Gespeichert in:
| Weitere Verfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2014
|
| In: |
Acta neurologica Scandinavica
Year: 2014, Jahrgang: 129, Heft: 198, Pages: 7-12 |
| ISSN: | 1600-0404 |
| DOI: | 10.1111/ane.12230 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1111/ane.12230
|
| Verfasserangaben: | J. Koht, A. Rengmark, T. Opladen, K. A. Bjørnar, T. Selberg, C. M. E. Tallaksen, N. Blau, M. Toft |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1503374254 | ||
| 003 | DE-627 | ||
| 005 | 20220812000441.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 150602s2014 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/ane.12230 |2 doi | |
| 024 | 7 | |a 175274319 |2 swets | |
| 035 | |a (DE-627)1503374254 | ||
| 035 | |a (DE-576)43337425X | ||
| 035 | |a (DE-599)BSZ43337425X | ||
| 035 | |a (OCoLC)1340692132 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 245 | 0 | 0 | |a Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene |c J. Koht, A. Rengmark, T. Opladen, K. A. Bjørnar, T. Selberg, C. M. E. Tallaksen, N. Blau, M. Toft |
| 264 | 1 | |c 2014 | |
| 300 | |a 6 | ||
| 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 02.06.2015 | ||
| 700 | 1 | |a Koht, Jeanette |0 (DE-588)1068594152 |0 (DE-627)82049948X |0 (DE-576)427909724 |4 oth | |
| 700 | 1 | |a Opladen, Thomas |d 1974- |0 (DE-588)124489656 |0 (DE-627)642820481 |0 (DE-576)335321291 |4 oth | |
| 773 | 0 | 8 | |i In |t Acta neurologica Scandinavica |d [Hoboken, NJ] : Wiley, 1961 |g 129(2014), 198, Seite 7-12 |h Online-Ressource |w (DE-627)320415740 |w (DE-600)2001898-8 |w (DE-576)091175615 |x 1600-0404 |7 nnas |a Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene |
| 773 | 1 | 8 | |g volume:129 |g year:2014 |g number:198 |g pages:7-12 |g extent:6 |a Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1111/ane.12230 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20150602 | ||
| 993 | |a Article | ||
| 994 | |a 2014 | ||
| 998 | |g 124489656 |a Opladen, Thomas |m 124489656:Opladen, Thomas |d 910000 |d 910500 |e 910000PO124489656 |e 910500PO124489656 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 999 | |a KXP-PPN1503374254 |e 2845433875 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"title":[{"title_sort":"Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene","title":"Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene"}],"relHost":[{"note":["Gesehen am 27.01.2025","Fortsetzung der Druck-Ausgabe"],"recId":"320415740","part":{"volume":"129","issue":"198","text":"129(2014), 198, Seite 7-12","pages":"7-12","extent":"6","year":"2014"},"pubHistory":["37.1961 [?]-"],"type":{"bibl":"periodical","media":"Online-Ressource"},"id":{"zdb":["2001898-8"],"eki":["320415740"],"issn":["1600-0404"],"doi":["10.1111/(ISSN)1600-0404"]},"title":[{"title":"Acta neurologica Scandinavica","title_sort":"Acta neurologica Scandinavica"}],"origin":[{"dateIssuedDisp":"2024-","publisher":"Wiley ; Munksgaard ; Blackwell Science ; Wiley-Blackwell ; Hindawi Limited","publisherPlace":"[Hoboken, NJ] ; Copenhagen ; Oxford ; Oxford ; London","dateIssuedKey":"2024"}],"physDesc":[{"extent":"Online-Ressource"}],"disp":"Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase geneActa neurologica Scandinavica","language":["eng"]}],"id":{"doi":["10.1111/ane.12230"],"eki":["1503374254"]},"name":{"displayForm":["J. Koht, A. Rengmark, T. Opladen, K. A. Bjørnar, T. Selberg, C. M. E. Tallaksen, N. Blau, M. Toft"]},"physDesc":[{"extent":"6 S."}],"origin":[{"dateIssuedKey":"2014","dateIssuedDisp":"2014"}],"language":["eng"],"person":[{"family":"Koht","display":"Koht, Jeanette","role":"oth","given":"Jeanette"},{"display":"Opladen, Thomas","role":"oth","given":"Thomas","family":"Opladen"}],"recId":"1503374254","note":["Gesehen am 02.06.2015"],"type":{"bibl":"article-journal","media":"Online-Ressource"}} | ||
| SRT | |a CLINICALAN2014 | ||