The case report by Mabry et al.(1970) of a family with four children with elevated tissue non-
specific alkaline phosphatase, seizures and profound developmental disability, became the …

Glycosylphosphatidylinositol (GPI) is a highly conserved post-translational modification in
eukaryotes, which is essential for anchoring various proteins to the cell surface. Dysfunction …

Thirty genes are involved in the biosynthesis and modification of
glycosylphosphatidylinositol (GPI)-anchored proteins, and defects in these genes cause …

Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI‐anchored proteins
(GPI‐APs) with crucial roles in diverse biological processes. The highly conserved …

Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol
biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly …

Genetic counseling and treatment options for rare developmental disabilities (DDs) have
been revolutionized by the opportunities made possible by using massively parallel …

Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and
PGAP3) encoding proteins in the Glycosyl phosphatidylinositol (GPI)-anchor-synthesis …

Introduction: Inherited glycosylphosphatidylinositol biosynthesis defect is considered a
subset of the congenital glycosylation disorder that result from mutations in the genes …

To the Editor: A 2-y-old boy, first-born to consanguineous parents, presented with global
developmental delay. He could sit independently but spoke only one meaningful word. Initial …

PGAP2 gene has been known to be the cause of “hyperphosphatasia, mental retardation
syndrome-3”(HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as …