Results 61 to 70 of about 1,574 (145)

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review. [PDF]

open access: yesMol Genet Genomic Med
Salmaninejad A   +10 more
europepmc   +1 more source

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17. [PDF]

open access: yesMol Genet Genomic Med
Mukai T   +10 more
europepmc   +1 more source

Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies. [PDF]

open access: yesJ Biol Chem
Li X   +8 more
europepmc   +1 more source

Diacylglycerol kinase-ε is required for the formation of GPI-anchored CD14 and the LPS-induced proinflammatory responses of macrophages. [PDF]

open access: yesCell Commun Signal
Hromada-Judycka A   +6 more
europepmc   +1 more source

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