Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

BACKGROUND AND OBJECTIVES: To expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency. METHODS: An international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and neuroimaging data were collected for comparison. W...

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Detalles Bibliográficos
Autores principales: Castle, Alison M.R., Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin C., Heron, Delphine, Keren, Boris, Johnstone, Devon L., Mears, Wendy, Morlot, Susanne, Nguyen, Thi Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William Boyce, Jones, Julie R., Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David A., Campeau, Philippe M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532669/
https://www.ncbi.nlm.nih.gov/pubmed/34703884
http://dx.doi.org/10.1212/NXG.0000000000000631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532669/
https://www.ncbi.nlm.nih.gov/pubmed/34703884
http://dx.doi.org/10.1212/NXG.0000000000000631

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