article_metadata: Martina Messina Emanuela Manea Thomas Cullup Karin Tuschl Spyros Batzios
article_metadata: 10.1002/jmd2.12347
article_metadata: JIMD Rep
article_metadata: 2022 Nov 22;64(1):42-52.
article_metadata: csf gpi‐anchor defects hpmrs pgap2‐cdg developmental delay folinic acid pyridoxine
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36636587/
article_metadata: Case Reports
article_metadata: PMC9830023
article_metadata: 36636587
article_metadata: Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid
article_metadata: 2022