Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cyt...
Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis
About this item
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Author / Creator
Knaus, Alexej , Jean Tori Pantel , Pendziwiat, Manuela , Hajjir, Nurulhuda , Zhao, Max , Hsieh, Tzung-Chien , Schubach, Max , Gurovich, Yaron , Fleischer, Nicole , Jaeger, Marten , Koehler, Sebastian , Muhle, Hiltrud , Korff, Christian , Moller, Rikke Steensbjerre , Bayat, Allan , Calvas, Patrick , Chassaing, Nicolas , Warren, Hannah , Skinner, Steven A , Louie, Raymond , Evers, Christina , Bohn, Marc , Christen, Hans-Juergen , Myrthe Van Den Born , Obersztyn, Ewa , Charzewska, Agnieszka , Endziniene, Milda , Kortuem, Fanny , Brown, Natasha , Robinson, Peter Nick , Helenius, Jurgen Schelhaas , Weber, Yvonne , Helbig, Ingo , Mundlos, Stefan , Horn, Denise and Krawitz, Peter Michael
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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More information
Scope and Contents
Contents
Background: Glycosylphosphatidylinositol Biosynthesis Defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has...
Alternative Titles
Full title
Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis
Authors, Artists and Contributors
Author / Creator
Jean Tori Pantel
Pendziwiat, Manuela
Hajjir, Nurulhuda
Zhao, Max
Hsieh, Tzung-Chien
Schubach, Max
Gurovich, Yaron
Fleischer, Nicole
Jaeger, Marten
Koehler, Sebastian
Muhle, Hiltrud
Korff, Christian
Moller, Rikke Steensbjerre
Bayat, Allan
Calvas, Patrick
Chassaing, Nicolas
Warren, Hannah
Skinner, Steven A
Louie, Raymond
Evers, Christina
Bohn, Marc
Christen, Hans-Juergen
Myrthe Van Den Born
Obersztyn, Ewa
Charzewska, Agnieszka
Endziniene, Milda
Kortuem, Fanny
Brown, Natasha
Robinson, Peter Nick
Helenius, Jurgen Schelhaas
Weber, Yvonne
Helbig, Ingo
Mundlos, Stefan
Horn, Denise
Krawitz, Peter Michael
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2071244237
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2071244237
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/216291
How to access this item
https://www.proquest.com/docview/2071244237?pq-origsite=primo&accountid=13902
