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