PGAP3-congenital disorder of glycosylation (Year of the Zebra)

Описание: What is PGAP3-congenital disorder of glycosylation? PGAP3-congenital disorder of glycosylation, or PGAP3-CDG for short, also known as Mabry syndrome and previously known as hyperphosphatasia with impaired intellectual development syndrome 4, is a rare inherited neurological disorder caused by defects in one of the pathways of glycosylation.

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