Results 111 to 120 of about 2,358 (202)

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

Reviewing Glycosyl-Inositols: Natural Occurrence, Biological Roles, and Synthetic Techniques. [PDF]

open access: yesChembiochem
Miranda-Molina A   +3 more
europepmc   +1 more source

Pancytopenia in a Case of Aplastic Anaemia/Paroxysmal Nocturnal Haemoglobinuria Unmasked by SARS-CoV-2 Infection: A Case Report. [PDF]

open access: yesMedicina (Kaunas), 2022
Iannuzzi A   +8 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

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