Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
2018
|
| In: |
Molecular genetics and metabolism
Year: 2018, Volume: 123, Issue: 3, Pages: 364-374 |
| ISSN: | 1096-7206 |
| DOI: | 10.1016/j.ymgme.2018.01.008 |
| Online Access: | Resolving-System, Informationsseite zum Volltext, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2018.01.008
|
| Author Notes: | Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G. Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F. Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G. Christoph Korenke, Christian Thiel |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1665286334 | ||
| 003 | DE-627 | ||
| 005 | 20220816151223.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 190513s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ymgme.2018.01.008 |2 doi | |
| 035 | |a (DE-627)1665286334 | ||
| 035 | |a (DE-599)KXP1665286334 | ||
| 035 | |a (OCoLC)1341212816 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Dimitrov, Bianca |e VerfasserIn |0 (DE-588)1148030352 |0 (DE-627)1007508981 |0 (DE-576)496158856 |4 aut | |
| 245 | 1 | 0 | |a Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG |c Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G. Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F. Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G. Christoph Korenke, Christian Thiel |
| 264 | 1 | |c 2018 | |
| 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 12.03.2020 | ||
| 700 | 1 | |a Himmelreich, Nastassja |e VerfasserIn |0 (DE-588)1067678972 |0 (DE-627)819077003 |0 (DE-576)426841123 |4 aut | |
| 700 | 1 | |a Lüchtenborg, Christian |e VerfasserIn |0 (DE-588)1163962635 |0 (DE-627)1028340184 |0 (DE-576)508274001 |4 aut | |
| 700 | 1 | |a Okun, Jürgen G. |d 1968- |e VerfasserIn |0 (DE-588)121578232 |0 (DE-627)705551415 |0 (DE-576)292781296 |4 aut | |
| 700 | 1 | |a Breuer, Maximilian |e VerfasserIn |0 (DE-588)1154965376 |0 (DE-627)1016277431 |0 (DE-576)501339396 |4 aut | |
| 700 | 1 | |a Hutter, Anna-Marlen |d 1989- |e VerfasserIn |0 (DE-588)1198256001 |0 (DE-627)1680572784 |4 aut | |
| 700 | 1 | |a Carl, Matthias |d 1968- |e VerfasserIn |0 (DE-588)121947734 |0 (DE-627)705711404 |0 (DE-576)293012164 |4 aut | |
| 700 | 1 | |a Guglielmi, Luca |e VerfasserIn |0 (DE-588)1125035978 |0 (DE-627)879354577 |0 (DE-576)483287652 |4 aut | |
| 700 | 1 | |a Hellwig, Andrea |e VerfasserIn |0 (DE-588)1055984356 |0 (DE-627)79302112X |0 (DE-576)412003775 |4 aut | |
| 700 | 1 | |a Thiemann, Kai Christian |d 1985- |e VerfasserIn |0 (DE-588)1118871588 |0 (DE-627)872340147 |0 (DE-576)479618399 |4 aut | |
| 700 | 1 | |a Jost, Markus |e VerfasserIn |0 (DE-588)1111059101 |0 (DE-627)865468400 |0 (DE-576)475903595 |4 aut | |
| 700 | 1 | |a Peters, Verena |d 1968- |e VerfasserIn |0 (DE-588)118132202 |0 (DE-627)69469892X |0 (DE-576)291731848 |4 aut | |
| 700 | 1 | |a Staufner, Christian |d 1980- |e VerfasserIn |0 (DE-588)141097515 |0 (DE-627)703880950 |0 (DE-576)321299469 |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 Paramasivam, Nagarajan |d 1985- |e VerfasserIn |0 (DE-588)1027462979 |0 (DE-627)729165485 |0 (DE-576)373239238 |4 aut | |
| 700 | 1 | |a Eils, Roland |d 1965- |e VerfasserIn |0 (DE-588)1020648287 |0 (DE-627)691291705 |0 (DE-576)361718195 |4 aut | |
| 700 | 1 | |a Strahl, Sabine |e VerfasserIn |0 (DE-588)1034793055 |0 (DE-627)74629073X |0 (DE-576)382427939 |4 aut | |
| 700 | 1 | |a Brügger, Britta |d 1969- |e VerfasserIn |0 (DE-588)121046028 |0 (DE-627)081051743 |0 (DE-576)292514492 |4 aut | |
| 700 | 1 | |a Korenke, Christoph |e VerfasserIn |0 (DE-588)111485479 |0 (DE-627)486911063 |0 (DE-576)289703840 |4 aut | |
| 700 | 1 | |a Thiel, Christian |d 1972- |e VerfasserIn |0 (DE-588)124888127 |0 (DE-627)367435276 |0 (DE-576)293543151 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular genetics and metabolism |d Orlando, Fla. : Academic Press, 1998 |g 123(2018), 3, Seite 364-374 |h Online-Ressource |w (DE-627)268125260 |w (DE-600)1471393-7 |w (DE-576)106869493 |x 1096-7206 |7 nnas |a Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG |
| 773 | 1 | 8 | |g volume:123 |g year:2018 |g number:3 |g pages:364-374 |g extent:11 |a Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ymgme.2018.01.008 |x Resolving-System |y Informationsseite zum Volltext |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200319 | ||
| 992 | |a 20200313 | ||
| 993 | |a Article | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 994 | |a 2018 | ||
| 998 | |g 124888127 |a Thiel, Christian |m 124888127:Thiel, Christian |d 910000 |d 910500 |e 910000PT124888127 |e 910500PT124888127 |k 0/910000/ |k 1/910000/910500/ |p 25 |y j | ||
| 998 | |g 121046028 |a Brügger, Britta |m 121046028:Brügger, Britta |d 700000 |d 711000 |e 700000PB121046028 |e 711000PB121046028 |k 0/700000/ |k 1/700000/711000/ |p 21 | ||
| 998 | |g 1034793055 |a Strahl, Sabine |m 1034793055:Strahl, Sabine |d 700000 |d 721000 |e 700000PS1034793055 |e 721000PS1034793055 |k 0/700000/ |k 1/700000/721000/ |p 22 | ||
| 998 | |g 1020648287 |a Eils, Roland |m 1020648287:Eils, Roland |d 910000 |d 999701 |e 910000PE1020648287 |e 999701PE1020648287 |k 0/910000/ |k 1/910000/999701/ |p 19 | ||
| 998 | |g 1027462979 |a Paramasivam, Nagarajan |m 1027462979:Paramasivam, Nagarajan |d 50000 |e 50000PP1027462979 |k 0/50000/ |p 17 | ||
| 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 15 | ||
| 998 | |g 141097515 |a Staufner, Christian |m 141097515:Staufner, Christian |d 910000 |d 910500 |e 910000PS141097515 |e 910500PS141097515 |k 0/910000/ |k 1/910000/910500/ |p 14 | ||
| 998 | |g 118132202 |a Peters, Verena |m 118132202:Peters, Verena |d 910000 |d 910500 |e 910000PP118132202 |e 910500PP118132202 |k 0/910000/ |k 1/910000/910500/ |p 13 | ||
| 998 | |g 1111059101 |a Jost, Markus |m 1111059101:Jost, Markus |d 910000 |d 910500 |e 910000PJ1111059101 |e 910500PJ1111059101 |k 0/910000/ |k 1/910000/910500/ |p 12 | ||
| 998 | |g 1118871588 |a Thiemann, Kai Christian |m 1118871588:Thiemann, Kai Christian |d 910000 |d 910500 |e 910000PT1118871588 |e 910500PT1118871588 |k 0/910000/ |k 1/910000/910500/ |p 11 | ||
| 998 | |g 1055984356 |a Hellwig, Andrea |m 1055984356:Hellwig, Andrea |d 700000 |d 712000 |d 712100 |e 700000PH1055984356 |e 712000PH1055984356 |e 712100PH1055984356 |k 0/700000/ |k 1/700000/712000/ |k 2/700000/712000/712100/ |p 10 | ||
| 998 | |g 1125035978 |a Guglielmi, Luca |m 1125035978:Guglielmi, Luca |d 60000 |e 60000PG1125035978 |k 0/60000/ |p 9 | ||
| 998 | |g 121947734 |a Carl, Matthias |m 121947734:Carl, Matthias |d 60000 |d 999810 |e 60000PC121947734 |e 999810PC121947734 |k 0/60000/ |k 1/60000/999810/ |p 8 | ||
| 998 | |g 1198256001 |a Hutter, Anna-Marlen |m 1198256001:Hutter, Anna-Marlen |d 910000 |d 910500 |e 910000PH1198256001 |e 910500PH1198256001 |k 0/910000/ |k 1/910000/910500/ |p 7 | ||
| 998 | |g 1154965376 |a Breuer, Maximilian |m 1154965376:Breuer, Maximilian |d 910000 |d 910500 |e 910000PB1154965376 |e 910500PB1154965376 |k 0/910000/ |k 1/910000/910500/ |p 6 | ||
| 998 | |g 121578232 |a Okun, Jürgen G. |m 121578232:Okun, Jürgen G. |d 910000 |d 910500 |e 910000PO121578232 |e 910500PO121578232 |k 0/910000/ |k 1/910000/910500/ |p 5 | ||
| 998 | |g 1163962635 |a Lüchtenborg, Christian |m 1163962635:Lüchtenborg, Christian |d 500000 |d 510083 |e 500000PL1163962635 |e 510083PL1163962635 |k 0/500000/ |k 1/500000/510083/ |p 4 | ||
| 998 | |g 1067678972 |a Himmelreich, Nastassja |m 1067678972:Himmelreich, Nastassja |d 910000 |d 910500 |e 910000PH1067678972 |e 910500PH1067678972 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 1148030352 |a Dimitrov, Bianca |m 1148030352:Dimitrov, Bianca |d 910000 |d 910500 |e 910000PD1148030352 |e 910500PD1148030352 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1665286334 |e 3610786914 | ||
| 999 | |a KXP-PPN1665286334 |e 3607532915 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G. Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F. Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G. Christoph Korenke, Christian Thiel"]},"note":["Gesehen am 12.03.2020"],"language":["eng"],"recId":"1665286334","origin":[{"dateIssuedKey":"2018","dateIssuedDisp":"2018"}],"id":{"doi":["10.1016/j.ymgme.2018.01.008"],"eki":["1665286334"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"origin":[{"publisher":"Academic Press","dateIssuedDisp":"1998-","dateIssuedKey":"1998","publisherPlace":"Orlando, Fla."}],"part":{"volume":"123","year":"2018","text":"123(2018), 3, Seite 364-374","extent":"11","issue":"3","pages":"364-374"},"note":["Gesehen am 14.02.20"],"language":["eng"],"recId":"268125260","disp":"Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGMolecular genetics and metabolism","pubHistory":["63.1998 -"],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"Molecular genetics and metabolism","title":"Molecular genetics and metabolism"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"id":{"zdb":["1471393-7"],"eki":["268125260"],"issn":["1096-7206"]}}],"physDesc":[{"extent":"11 S."}],"title":[{"title_sort":"Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG","title":"Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG"}],"person":[{"display":"Dimitrov, Bianca","family":"Dimitrov","given":"Bianca","role":"aut"},{"family":"Himmelreich","display":"Himmelreich, Nastassja","role":"aut","given":"Nastassja"},{"role":"aut","given":"Christian","family":"Lüchtenborg","display":"Lüchtenborg, Christian"},{"given":"Jürgen G.","role":"aut","display":"Okun, Jürgen G.","family":"Okun"},{"display":"Breuer, Maximilian","family":"Breuer","given":"Maximilian","role":"aut"},{"given":"Anna-Marlen","role":"aut","display":"Hutter, Anna-Marlen","family":"Hutter"},{"given":"Matthias","role":"aut","display":"Carl, Matthias","family":"Carl"},{"given":"Luca","role":"aut","display":"Guglielmi, Luca","family":"Guglielmi"},{"given":"Andrea","role":"aut","display":"Hellwig, Andrea","family":"Hellwig"},{"given":"Kai Christian","role":"aut","display":"Thiemann, Kai Christian","family":"Thiemann"},{"role":"aut","given":"Markus","family":"Jost","display":"Jost, Markus"},{"role":"aut","given":"Verena","family":"Peters","display":"Peters, Verena"},{"given":"Christian","role":"aut","display":"Staufner, Christian","family":"Staufner"},{"display":"Hoffmann, Georg F.","family":"Hoffmann","given":"Georg F.","role":"aut"},{"family":"Paramasivam","display":"Paramasivam, Nagarajan","role":"aut","given":"Nagarajan"},{"given":"Roland","role":"aut","display":"Eils, Roland","family":"Eils"},{"display":"Strahl, Sabine","family":"Strahl","given":"Sabine","role":"aut"},{"given":"Britta","role":"aut","display":"Brügger, Britta","family":"Brügger"},{"display":"Korenke, Christoph","family":"Korenke","given":"Christoph","role":"aut"},{"given":"Christian","role":"aut","display":"Thiel, Christian","family":"Thiel"}]} | ||
| SRT | |a DIMITROVBICUTISLAXAE2018 | ||