Dr Spyros Batzios describes a patient diagnosed with hyperphosphatasia with mental retardation syndrome 3 (also known as Mabry Syndrome) and reports on novel findings of CSF abnormalities and response to treatment with pyridoxine and folinic acid.

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

Martina Messina, et al

https://doi.org/10.1002/jmd2.12347