Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
Introduction - Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult.
Gespeichert in:
| Hauptverfasser: | , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2021
|
| In: |
Journal of inherited metabolic disease
Year: 2021, Jahrgang: 44, Heft: 1, Pages: 193-214 |
| ISSN: | 1573-2665 |
| DOI: | 10.1002/jimd.12297 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12297 Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12297 
|
| Verfasserangaben: | Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, Stefan Kölker, Matthias R. Baumgartner |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1782046038 | ||
| 003 | DE-627 | ||
| 005 | 20230426163130.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 211213s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/jimd.12297 |2 doi | |
| 035 | |a (DE-627)1782046038 | ||
| 035 | |a (DE-599)KXP1782046038 | ||
| 035 | |a (OCoLC)1295644569 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Hörster, Friederike |e VerfasserIn |0 (DE-588)1070020419 |0 (DE-627)823189155 |0 (DE-576)429699220 |4 aut | |
| 245 | 1 | 0 | |a Delineating the clinical spectrum of isolated methylmalonic acidurias |b cblA and mut |c Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, Stefan Kölker, Matthias R. Baumgartner |
| 264 | 1 | |c 2021 | |
| 300 | |a 22 | ||
| 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: 05 August 2020 | ||
| 500 | |a Gesehen am 13.12.2021 | ||
| 520 | |a Introduction - Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. | ||
| 700 | 1 | |a Tuncel, Ali Tunç |d 1988- |e VerfasserIn |0 (DE-588)1075946069 |0 (DE-627)83405728X |0 (DE-576)444773339 |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 Plessl, Tanja |e VerfasserIn |4 aut | |
| 700 | 1 | |a Froese, Sean D. |e VerfasserIn |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 | |
| 700 | 1 | |a Baumgartner, Matthias R. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of inherited metabolic disease |d Hoboken, NJ : Wiley, 1978 |g 44(2021), 1, Seite 193-214 |h Online-Ressource |w (DE-627)320457753 |w (DE-600)2006875-X |w (DE-576)105704652 |x 1573-2665 |7 nnas |a Delineating the clinical spectrum of isolated methylmalonic acidurias cblA and mut |
| 773 | 1 | 8 | |g volume:44 |g year:2021 |g number:1 |g pages:193-214 |g extent:22 |a Delineating the clinical spectrum of isolated methylmalonic acidurias cblA and mut |
| 856 | 4 | 0 | |u https://doi.org/10.1002/jimd.12297 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/10.1002/jimd.12297 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20211213 | ||
| 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 7 | ||
| 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 6 | ||
| 998 | |g 1114740195 |a Gleich, Florian |m 1114740195:Gleich, Florian |d 50000 |e 50000PG1114740195 |k 0/50000/ |p 3 | ||
| 998 | |g 1075946069 |a Tuncel, Ali Tunç |m 1075946069:Tuncel, Ali Tunç |d 910000 |d 910500 |e 910000PT1075946069 |e 910500PT1075946069 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 1070020419 |a Hörster, Friederike |m 1070020419:Hörster, Friederike |d 910000 |d 910500 |d 50000 |e 910000PH1070020419 |e 910500PH1070020419 |e 50000PH1070020419 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1782046038 |e 4019651191 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedKey":"2021","dateIssuedDisp":"2021"}],"recId":"1782046038","language":["eng"],"note":["First published: 05 August 2020","Gesehen am 13.12.2021"],"name":{"displayForm":["Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, Stefan Kölker, Matthias R. Baumgartner"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"pubHistory":["1.1978 -"],"language":["eng"],"note":["Gesehen am 11.03.20","Ungezählte Beil.: Suppl"],"recId":"320457753","origin":[{"dateIssuedKey":"1978","publisher":"Wiley ; Kluwer ; Springer Science + Business Media B.V","dateIssuedDisp":"1978-","publisherPlace":"Hoboken, NJ ; Dordrecht [u.a.] ; Dordrecht [u.a.]"}],"id":{"zdb":["2006875-X"],"eki":["320457753"],"doi":["10.1002/(ISSN)1573-2665"],"issn":["1573-2665"]},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"Journal of inherited metabolic disease","title":"Journal of inherited metabolic disease","subtitle":"JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Delineating the clinical spectrum of isolated methylmalonic acidurias cblA and mutJournal of inherited metabolic disease","titleAlt":[{"title":"JIMD"}],"part":{"text":"44(2021), 1, Seite 193-214","volume":"44","year":"2021","extent":"22","issue":"1","pages":"193-214"}}],"physDesc":[{"extent":"22 S."}],"title":[{"title":"Delineating the clinical spectrum of isolated methylmalonic acidurias","title_sort":"Delineating the clinical spectrum of isolated methylmalonic acidurias","subtitle":"cblA and mut"}],"id":{"doi":["10.1002/jimd.12297"],"eki":["1782046038"]},"person":[{"display":"Hörster, Friederike","family":"Hörster","given":"Friederike","role":"aut"},{"given":"Ali Tunç","role":"aut","display":"Tuncel, Ali Tunç","family":"Tuncel"},{"given":"Florian","role":"aut","display":"Gleich, Florian","family":"Gleich"},{"given":"Tanja","role":"aut","display":"Plessl, Tanja","family":"Plessl"},{"family":"Froese","display":"Froese, Sean D.","role":"aut","given":"Sean D."},{"family":"Garbade","display":"Garbade, Sven","role":"aut","given":"Sven"},{"given":"Stefan","role":"aut","display":"Kölker, Stefan","family":"Kölker"},{"role":"aut","given":"Matthias R.","family":"Baumgartner","display":"Baumgartner, Matthias R."}]} | ||
| SRT | |a HOERSTERFRDELINEATIN2021 | ||