Cargando…
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...
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: | |
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 |
Ejemplares similares
-
HYPERPHOSPHATASIA, NEUROLOGIC DEFICITS AND MENTAL RETARDATION IN FOUR SIBLINGS
por: Narayanan, H.S., et al.
Publicado: (1987) -
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders
por: Altassan, Ruqaiah, et al.
Publicado: (2018) -
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report
por: Fu, Li’na, et al.
Publicado: (2019) -
Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review
por: Abi Farraj, Layal, et al.
Publicado: (2019) -
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
por: Knaus, Alexej, et al.
Publicado: (2016)