EPISODE · Dec 28, 2022 · 4 MIN
Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
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
What this episode covers
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
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Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid
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