Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
25 January 2021
|
| In: |
Journal of inherited metabolic disease
Year: 2021, Jahrgang: 44, Heft: 4, Pages: 1-14 |
| ISSN: | 1573-2665 |
| DOI: | 10.1002/jimd.12364 |
| Online-Zugang: | Resolving-System, kostenfrei: https://doi.org/10.1002/jimd.12364 |
| Verfasserangaben: | Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1757004467 | ||
| 003 | DE-627 | ||
| 005 | 20240808113840.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210503s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/jimd.12364 |2 doi | |
| 035 | |a (DE-627)1757004467 | ||
| 035 | |a (DE-599)KXP1757004467 | ||
| 035 | |a (OCoLC)1341407767 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Mütze, Ulrike |d 1979- |e VerfasserIn |0 (DE-588)135567963 |0 (DE-627)693593024 |0 (DE-576)279666438 |4 aut | |
| 245 | 1 | 0 | |a Newborn screening and disease variants predict neurological outcome in isovaleric aciduria |c Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker |
| 264 | 1 | |c 25 January 2021 | |
| 300 | |a 14 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a First published: 25.01.2021 | ||
| 700 | 1 | |a Henze, Lucy |d 1994- |e VerfasserIn |0 (DE-588)1337927716 |0 (DE-627)189780265X |4 aut | |
| 700 | 1 | |a Gleich, Florian |e VerfasserIn |0 (DE-588)1114740195 |0 (DE-627)86900445X |0 (DE-576)47746100X |4 aut | |
| 700 | 1 | |a Lindner, Martin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grünert, Sarah |d 1979- |e VerfasserIn |0 (DE-588)130069817 |0 (DE-627)489615724 |0 (DE-576)189288264 |4 aut | |
| 700 | 1 | |a Spiekerkötter, Ute |e VerfasserIn |0 (DE-588)1140059599 |0 (DE-627)898178932 |0 (DE-576)175985421 |4 aut | |
| 700 | 1 | |a Santer, René |e VerfasserIn |0 (DE-588)102743519X |0 (DE-627)729148351 |0 (DE-576)373223463 |4 aut | |
| 700 | 1 | |a Blessing, Holger |d 1974- |e VerfasserIn |0 (DE-588)136525202 |0 (DE-627)584491263 |0 (DE-576)301064008 |4 aut | |
| 700 | 1 | |a Thimm, Eva |e VerfasserIn |0 (DE-588)1102937363 |0 (DE-627)860526542 |0 (DE-576)470354046 |4 aut | |
| 700 | 1 | |a Ensenauer, Regina |e VerfasserIn |0 (DE-588)1102937231 |0 (DE-627)860526372 |0 (DE-576)470354097 |4 aut | |
| 700 | 1 | |a Weigel, Johannes |e VerfasserIn |4 aut | |
| 700 | 1 | |a Beblo, Skadi |d 1967- |e VerfasserIn |0 (DE-588)115614702 |0 (DE-627)691454787 |0 (DE-576)289979692 |4 aut | |
| 700 | 1 | |a Arélin, Maria |d 1981- |e VerfasserIn |0 (DE-588)1053827806 |0 (DE-627)790771837 |0 (DE-576)40976387X |4 aut | |
| 700 | 1 | |a Hennermann, Julia B. |e VerfasserIn |0 (DE-588)1238385893 |0 (DE-627)1765887798 |4 aut | |
| 700 | 1 | |a Marquardt, Thorsten |e VerfasserIn |4 aut | |
| 700 | 1 | |a Marquardt, Iris |e VerfasserIn |0 (DE-588)1157352030 |0 (DE-627)1021202223 |0 (DE-576)502880686 |4 aut | |
| 700 | 1 | |a Freisinger, Peter |e VerfasserIn |4 aut | |
| 700 | 1 | |a Krämer, Johannes |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dieckmann, Andrea |d 1967- |e VerfasserIn |0 (DE-588)121149358 |0 (DE-627)705260437 |0 (DE-576)292559143 |4 aut | |
| 700 | 1 | |a Weinhold, Natalie |d 1970- |e VerfasserIn |0 (DE-588)124860567 |0 (DE-627)367227312 |0 (DE-576)187188610 |4 aut | |
| 700 | 1 | |a Keller, Mareike |e VerfasserIn |0 (DE-588)1242124411 |0 (DE-627)1772054992 |4 aut | |
| 700 | 1 | |a Walter, Magdalena |e VerfasserIn |0 (DE-588)1225063507 |0 (DE-627)174468314X |4 aut | |
| 700 | 1 | |a Schiergens, Katharina Anna |d 1985- |e VerfasserIn |0 (DE-588)113569172X |0 (DE-627)890691762 |0 (DE-576)490054374 |4 aut | |
| 700 | 1 | |a Maier, Esther M. |d 1970- |e VerfasserIn |0 (DE-588)123897408 |0 (DE-627)085509841 |0 (DE-576)293932336 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Garbade, Sven |d 1971- |e VerfasserIn |0 (DE-588)129234362 |0 (DE-627)707186889 |0 (DE-576)297554263 |4 aut | |
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of inherited metabolic disease |d Hoboken, NJ : Wiley, 1978 |g 44(2021), 4 vom: 25. Jan., Seite 1-14 |h Online-Ressource |w (DE-627)320457753 |w (DE-600)2006875-X |w (DE-576)105704652 |x 1573-2665 |7 nnas |a Newborn screening and disease variants predict neurological outcome in isovaleric aciduria |
| 773 | 1 | 8 | |g volume:44 |g year:2021 |g number:4 |g day:25 |g month:01 |g pages:1-14 |g extent:14 |a Newborn screening and disease variants predict neurological outcome in isovaleric aciduria |
| 856 | 4 | 0 | |u https://doi.org/10.1002/jimd.12364 |x Resolving-System |z kostenfrei |
| 951 | |a AR | ||
| 992 | |a 20220221 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |d 50000 |e 910000PK1022937758 |e 910500PK1022937758 |e 50000PK1022937758 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 27 |y j | ||
| 998 | |g 129234362 |a Garbade, Sven |m 129234362:Garbade, Sven |d 910000 |d 910500 |e 910000PG129234362 |e 910500PG129234362 |k 0/910000/ |k 1/910000/910500/ |p 26 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 25 | ||
| 998 | |g 1225063507 |a Walter, Magdalena |m 1225063507:Walter, Magdalena |d 910000 |d 910500 |e 910000PW1225063507 |e 910500PW1225063507 |k 0/910000/ |k 1/910000/910500/ |p 22 | ||
| 998 | |g 1242124411 |a Keller, Mareike |m 1242124411:Keller, Mareike |d 910000 |d 910500 |e 910000PK1242124411 |e 910500PK1242124411 |k 0/910000/ |k 1/910000/910500/ |p 21 | ||
| 998 | |g 1114740195 |a Gleich, Florian |m 1114740195:Gleich, Florian |d 50000 |e 50000PG1114740195 |k 0/50000/ |p 3 | ||
| 998 | |g 1337927716 |a Henze, Lucy |m 1337927716:Henze, Lucy |d 50000 |e 50000PH1337927716 |k 0/50000/ |p 1 |x j | ||
| 998 | |g 135567963 |a Mütze, Ulrike |m 135567963:Mütze, Ulrike |d 910000 |d 910500 |e 910000PM135567963 |e 910500PM135567963 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1757004467 |e 4070629173 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"recId":"1757004467","note":["First published: 25.01.2021"],"language":["eng"],"origin":[{"dateIssuedKey":"2021","dateIssuedDisp":"25 January 2021"}],"name":{"displayForm":["Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker"]},"id":{"eki":["1757004467"],"doi":["10.1002/jimd.12364"]},"type":{"bibl":"article-journal","media":"Online-Ressource"},"physDesc":[{"extent":"14 S."}],"relHost":[{"note":["Gesehen am 11.03.20","Ungezählte Beil.: Suppl"],"language":["eng"],"recId":"320457753","origin":[{"publisherPlace":"Hoboken, NJ ; Dordrecht [u.a.] ; Dordrecht [u.a.]","dateIssuedKey":"1978","dateIssuedDisp":"1978-","publisher":"Wiley ; Kluwer ; Springer Science + Business Media B.V"}],"pubHistory":["1.1978 -"],"part":{"volume":"44","year":"2021","text":"44(2021), 4 vom: 25. Jan., Seite 1-14","extent":"14","issue":"4","pages":"1-14"},"disp":"Newborn screening and disease variants predict neurological outcome in isovaleric aciduriaJournal of inherited metabolic disease","titleAlt":[{"title":"JIMD"}],"id":{"zdb":["2006875-X"],"doi":["10.1002/(ISSN)1573-2665"],"eki":["320457753"],"issn":["1573-2665"]},"title":[{"subtitle":"JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism","title":"Journal of inherited metabolic disease","title_sort":"Journal of inherited metabolic disease"}],"physDesc":[{"extent":"Online-Ressource"}],"type":{"bibl":"periodical","media":"Online-Ressource"}}],"title":[{"title_sort":"Newborn screening and disease variants predict neurological outcome in isovaleric aciduria","title":"Newborn screening and disease variants predict neurological outcome in isovaleric aciduria"}],"person":[{"role":"aut","given":"Ulrike","family":"Mütze","display":"Mütze, Ulrike"},{"given":"Lucy","role":"aut","display":"Henze, Lucy","family":"Henze"},{"role":"aut","given":"Florian","family":"Gleich","display":"Gleich, Florian"},{"display":"Lindner, Martin","family":"Lindner","given":"Martin","role":"aut"},{"family":"Grünert","display":"Grünert, Sarah","role":"aut","given":"Sarah"},{"given":"Ute","role":"aut","display":"Spiekerkötter, Ute","family":"Spiekerkötter"},{"given":"René","role":"aut","display":"Santer, René","family":"Santer"},{"display":"Blessing, Holger","family":"Blessing","given":"Holger","role":"aut"},{"role":"aut","given":"Eva","family":"Thimm","display":"Thimm, Eva"},{"family":"Ensenauer","display":"Ensenauer, Regina","role":"aut","given":"Regina"},{"role":"aut","given":"Johannes","family":"Weigel","display":"Weigel, Johannes"},{"role":"aut","given":"Skadi","family":"Beblo","display":"Beblo, Skadi"},{"family":"Arélin","display":"Arélin, Maria","role":"aut","given":"Maria"},{"display":"Hennermann, Julia B.","family":"Hennermann","given":"Julia B.","role":"aut"},{"display":"Marquardt, Thorsten","family":"Marquardt","given":"Thorsten","role":"aut"},{"display":"Marquardt, Iris","family":"Marquardt","given":"Iris","role":"aut"},{"role":"aut","given":"Peter","family":"Freisinger","display":"Freisinger, Peter"},{"display":"Krämer, Johannes","family":"Krämer","given":"Johannes","role":"aut"},{"given":"Andrea","role":"aut","display":"Dieckmann, Andrea","family":"Dieckmann"},{"role":"aut","given":"Natalie","family":"Weinhold","display":"Weinhold, Natalie"},{"given":"Mareike","role":"aut","display":"Keller, Mareike","family":"Keller"},{"display":"Walter, Magdalena","family":"Walter","given":"Magdalena","role":"aut"},{"display":"Schiergens, Katharina Anna","family":"Schiergens","given":"Katharina Anna","role":"aut"},{"given":"Esther M.","role":"aut","display":"Maier, Esther M.","family":"Maier"},{"given":"Georg F.","role":"aut","display":"Hoffmann, Georg F.","family":"Hoffmann"},{"given":"Sven","role":"aut","display":"Garbade, Sven","family":"Garbade"},{"given":"Stefan","role":"aut","display":"Kölker, Stefan","family":"Kölker"}]} | ||
| SRT | |a MUETZEULRINEWBORNSCR2520 | ||