Buchumschlag

Citrin deficiency mimicking mitochondrial depletion syndrome

Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Grünert, Sarah (VerfasserIn) , Schumann, A. (VerfasserIn) , Freisinger, P. (VerfasserIn) , Rosenbaum-Fabian, S. (VerfasserIn) , Schmidts, M. (VerfasserIn) , Müller, Amelie Johanna (VerfasserIn) , Beck-Wödl, S. (VerfasserIn) , Haack, T. B. (VerfasserIn) , Schneider, H. (VerfasserIn) , Fuchs, H. (VerfasserIn) , Teufel, U. (VerfasserIn) , Gramer, Gwendolyn (VerfasserIn) , Hannibal, L. (VerfasserIn) , Spiekerkötter, Ute (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 11 November 2020
In: BMC pediatrics
Year: 2020, Jahrgang: 20, Pages: 1-7
ISSN:1471-2431
DOI:10.1186/s12887-020-02409-x
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s12887-020-02409-x
Volltext
Verfasserangaben:S.C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A.J. Mueller, S. Beck-Wödl, T.B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal and U. Spiekerkoetter

MARC

LEADER 00000caa a2200000 c 4500
001 1760238309
003 DE-627
005 20241231004210.0
007 cr uuu---uuuuu
008 210610s2020 xx |||||o 00| ||eng c
024 7 |a 10.1186/s12887-020-02409-x  |2 doi 
035 |a (DE-627)1760238309 
035 |a (DE-599)KXP1760238309 
035 |a (OCoLC)1341415133 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Grünert, Sarah  |d 1979-  |e VerfasserIn  |0 (DE-588)130069817  |0 (DE-627)489615724  |0 (DE-576)189288264  |4 aut 
245 1 0 |a Citrin deficiency mimicking mitochondrial depletion syndrome  |c S.C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A.J. Mueller, S. Beck-Wödl, T.B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal and U. Spiekerkoetter 
264 1 |c 11 November 2020 
300 |a 7 
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 10.06.2021 
520 |a Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane. 
650 4 |a Citrin deficiency 
650 4 |a Hypoglycemia 
650 4 |a Neonatal cholestasis 
650 4 |a Newborn screening 
650 4 |a SLC25A13 
650 4 |a Urea cycle defect 
700 1 |a Schumann, A.  |e VerfasserIn  |4 aut 
700 1 |a Freisinger, P.  |e VerfasserIn  |4 aut 
700 1 |a Rosenbaum-Fabian, S.  |e VerfasserIn  |4 aut 
700 1 |a Schmidts, M.  |e VerfasserIn  |4 aut 
700 1 |8 1\p  |a Müller, Amelie Johanna  |e VerfasserIn  |0 (DE-588)1182723527  |0 (DE-627)1662881541  |4 aut 
700 1 |a Beck-Wödl, S.  |e VerfasserIn  |4 aut 
700 1 |a Haack, T. B.  |e VerfasserIn  |4 aut 
700 1 |a Schneider, H.  |e VerfasserIn  |4 aut 
700 1 |a Fuchs, H.  |e VerfasserIn  |4 aut 
700 1 |a Teufel, U.  |e VerfasserIn  |4 aut 
700 1 |a Gramer, Gwendolyn  |d 1979-  |e VerfasserIn  |0 (DE-588)132278626  |0 (DE-627)520401697  |0 (DE-576)299048179  |4 aut 
700 1 |a Hannibal, L.  |e VerfasserIn  |4 aut 
700 1 |8 2\p  |a Spiekerkötter, Ute  |e VerfasserIn  |0 (DE-588)1140059599  |0 (DE-627)898178932  |0 (DE-576)175985421  |4 aut 
773 0 8 |i Enthalten in  |t BMC pediatrics  |d London : BioMed Central, 2001  |g 20(2020), Artikel-ID 518, Seite 1-7  |h Online-Ressource  |w (DE-627)326643621  |w (DE-600)2041342-7  |w (DE-576)107014599  |x 1471-2431  |7 nnas  |a Citrin deficiency mimicking mitochondrial depletion syndrome 
773 1 8 |g volume:20  |g year:2020  |g elocationid:518  |g pages:1-7  |g extent:7  |a Citrin deficiency mimicking mitochondrial depletion syndrome 
856 4 0 |u https://doi.org/10.1186/s12887-020-02409-x  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
883 |8 1\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 2\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
951 |a AR 
992 |a 20210610 
993 |a Article 
994 |a 2020 
998 |g 132278626  |a Gramer, Gwendolyn  |m 132278626:Gramer, Gwendolyn  |d 910000  |d 910500  |d 50000  |e 910000PG132278626  |e 910500PG132278626  |e 50000PG132278626  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 12 
999 |a KXP-PPN1760238309  |e 3936674841 
BIB |a Y 
SER |a journal 
JSO |a {"note":["Gesehen am 10.06.2021"],"origin":[{"dateIssuedKey":"2020","dateIssuedDisp":"11 November 2020"}],"relHost":[{"recId":"326643621","pubHistory":["1.2001 -"],"id":{"eki":["326643621"],"issn":["1471-2431"],"zdb":["2041342-7"]},"note":["Gesehen am 22.05.20"],"origin":[{"publisherPlace":"London","dateIssuedKey":"2001","publisher":"BioMed Central","dateIssuedDisp":"2001-"}],"physDesc":[{"extent":"Online-Ressource"}],"disp":"Citrin deficiency mimicking mitochondrial depletion syndromeBMC pediatrics","language":["eng"],"type":{"media":"Online-Ressource","bibl":"periodical"},"title":[{"title":"BMC pediatrics","title_sort":"BMC pediatrics"}],"part":{"extent":"7","volume":"20","year":"2020","pages":"1-7","text":"20(2020), Artikel-ID 518, Seite 1-7"}}],"title":[{"title_sort":"Citrin deficiency mimicking mitochondrial depletion syndrome","title":"Citrin deficiency mimicking mitochondrial depletion syndrome"}],"person":[{"given":"Sarah","family":"Grünert","display":"Grünert, Sarah","role":"aut"},{"display":"Schumann, A.","role":"aut","given":"A.","family":"Schumann"},{"display":"Freisinger, P.","role":"aut","family":"Freisinger","given":"P."},{"display":"Rosenbaum-Fabian, S.","role":"aut","family":"Rosenbaum-Fabian","given":"S."},{"role":"aut","display":"Schmidts, M.","family":"Schmidts","given":"M."},{"display":"Müller, Amelie Johanna","role":"aut","given":"Amelie Johanna","family":"Müller"},{"family":"Beck-Wödl","given":"S.","display":"Beck-Wödl, S.","role":"aut"},{"display":"Haack, T. B.","role":"aut","family":"Haack","given":"T. B."},{"role":"aut","display":"Schneider, H.","family":"Schneider","given":"H."},{"role":"aut","display":"Fuchs, H.","given":"H.","family":"Fuchs"},{"family":"Teufel","given":"U.","role":"aut","display":"Teufel, U."},{"family":"Gramer","given":"Gwendolyn","display":"Gramer, Gwendolyn","role":"aut"},{"family":"Hannibal","given":"L.","role":"aut","display":"Hannibal, L."},{"family":"Spiekerkötter","given":"Ute","display":"Spiekerkötter, Ute","role":"aut"}],"physDesc":[{"extent":"7 S."}],"recId":"1760238309","name":{"displayForm":["S.C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A.J. Mueller, S. Beck-Wödl, T.B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal and U. Spiekerkoetter"]},"type":{"bibl":"article-journal","media":"Online-Ressource"},"language":["eng"],"id":{"doi":["10.1186/s12887-020-02409-x"],"eki":["1760238309"]}} 
SRT |a GRUENERTSACITRINDEFI1120 

Ähnliche Einträge