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Morava, Eva ; Vodopiutz, Julia 
; Lefeber, Dirk J. ; Janecke, Andreas R. ; Schmidt, Wolfgang M. ; Lechner, Silvia ; Item, Chike B. ; Sykut-Cegielska, Jolanta ; Adamowicz, Maciej ; Wierzba, Jolanta ; Zhang, Zong H. ; Mihalek, Ivana ; Stockler, Sylvia ; Bodamer, Olaf A. ; Lehle, Ludwig ; Wevers, Ron A.
; Lefeber, Dirk J. ; Janecke, Andreas R. ; Schmidt, Wolfgang M. ; Lechner, Silvia ; Item, Chike B. ; Sykut-Cegielska, Jolanta ; Adamowicz, Maciej ; Wierzba, Jolanta ; Zhang, Zong H. ; Mihalek, Ivana ; Stockler, Sylvia ; Bodamer, Olaf A. ; Lehle, Ludwig ; Wevers, Ron A. Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
Morava, Eva, Vodopiutz, Julia, Lefeber, Dirk J., Janecke, Andreas R. , Schmidt, Wolfgang M. , Lechner, Silvia, Item, Chike B., Sykut-Cegielska, Jolanta, Adamowicz, Maciej, Wierzba, Jolanta , Zhang, Zong H., Mihalek, Ivana, Stockler, Sylvia, Bodamer, Olaf A., Lehle, Ludwig and Wevers, Ron A.
(2012)
Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations.
Pediatrics 130 (4), e1034-e1039.
Date of publication of this fulltext: 19 Dec 2024 09:35
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| Item type | Article | ||||
| Journal or Publication Title | Pediatrics | ||||
| Publisher: | AMER ACAD PEDIATRICS | ||||
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| Place of Publication: | ELK GROVE VILLAGE | ||||
| Volume: | 130 | ||||
| Number of Issue or Book Chapter: | 4 | ||||
| Page Range: | e1034-e1039 | ||||
| Date | 2012 | ||||
| Institutions | Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) | ||||
| Identification Number |
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| Keywords | DEFICIENT GLYCOPROTEIN SYNDROME; N-GLYCOSYLATION; CDG; IK; ABNORMALITIES; GLYCAN; IX; beta-1,4 mannosyltransferase; CDG-Ik; short chain lipid-linked oligosaccharides; seizures; microcephaly | ||||
| Dewey Decimal Classification | 500 Science > 570 Life sciences 500 Science > 580 Botanical sciences | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 63317 |
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