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Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.
Biomarker and diagnostic research for glyceronephosphate O-acyltransferase deficiency has been reported in the published literature.
No clinical trials have been registered for glyceronephosphate O-acyltransferase deficiency.
3 publications have been identified in PubMed for glyceronephosphate O-acyltransferase deficiency. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (33%).
Li X (2026). [PMID: 41654138](https://pubmed.ncbi.nlm.nih.gov/41654138/). *The Journal of biological chemistry*. [Diagnostic / Biomarker]
Mehrabani-Tabari AA (2025). [PMID: 40345661](https://pubmed.ncbi.nlm.nih.gov/40345661/). *Journal of lipid research*. [Basic Science / Preclinical]
Sarkar C (2024). [PMID: 39404418](https://pubmed.ncbi.nlm.nih.gov/39404418/). *Cells*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 11:59 AM UTC