Article
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Genome medicine - 9 Jan 2018
Knaus Alexej, Pantel Jean Tori, Pendziwiat Manuela, Hajjir Nurulhuda, Zhao Max, Hsieh Tzung-Chien, Schubach Max, Gurovich Yaron, Fleischer Nicole, Jäger Marten, Köhler Sebastian, Muhle Hiltrud, Korff Christian, Møller Rikke S, Bayat Allan, Calvas Patrick, Chassaing Nicolas, Warren Hannah, Skinner Steven, Louie Raymond, Evers Christina, Bohn Marc, Christen Hans-Jürgen, van den Born Myrthe, Obersztyn Ewa, Charzewska Agnieszka, Endziniene Milda, Kortüm Fanny, Brown Natasha, Robinson Peter N, Schelhaas Helenius J, Weber Yvonne, Helbig Ingo, Mundlos Stefan, Horn Denise, Krawitz Peter M
Abstract excerpt
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 been used to assign GPIBDs to the phenotypic series of...
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