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Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

Glycosylphosphatidylinositol anchored proteins (GPI‐APs) represent a class of molecules attached to the external leaflet of the plasma membrane by the GPI anchor where they play important roles in numerous cellular processes including neurogenesis, cell adhesion, immune response and signalling. With...

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Detalles Bibliográficos
Autores principales:	Messina, Martina, Manea, Emanuela, Cullup, Thomas, Tuschl, Karin, Batzios, Spyros
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830023/ https://www.ncbi.nlm.nih.gov/pubmed/36636587 http://dx.doi.org/10.1002/jmd2.12347

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