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A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.
Biomarker and diagnostic research for PSAP-related sphingolipidosis has been reported in the published literature.
No clinical trials have been registered for PSAP-related sphingolipidosis.
276 publications have been identified in PubMed for PSAP-related sphingolipidosis. Research spans Basic Science / Preclinical (26%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 73 | 26% |
Data assembled from 2 of 12 sources · Last updated Oct 3, 2026, 5:09 PM UTC
Common questions about PSAP-related sphingolipidosis
Research summaries
56 |
20% |
Disease patterns and progression | 46 | 17% |
Clinical study results | 28 | 10% |
New treatment approaches | 28 | 10% |
Testing and diagnosis research | 27 | 10% |
Patient case studies | 17 | 6% |
Other research | 1 | 0% |
Taha HB (2026). [PMID: 41627451](https://pubmed.ncbi.nlm.nih.gov/41627451/). *Journal of molecular medicine (Berlin, Germany)*. [Review / Meta-Analysis]
Nordbeck P (2026). [PMID: 41519901](https://pubmed.ncbi.nlm.nih.gov/41519901/). *Nat Commun*. [Clinical Trial Publication]
Meucci MC (2026). [PMID: 40995845](https://pubmed.ncbi.nlm.nih.gov/40995845/). *Eur Heart J Cardiovasc Imaging*. [Diagnostic / Biomarker]
Kubohira Y (2026). [PMID: 41371839](https://pubmed.ncbi.nlm.nih.gov/41371839/). *Carbohydr Polym*. [Basic Science / Preclinical]
Kubo T (2026). [PMID: 41352439](https://pubmed.ncbi.nlm.nih.gov/41352439/). *Int J Cardiol*. [Epidemiology / Natural History]
Vitturi N (2026). [PMID: 41709110](https://pubmed.ncbi.nlm.nih.gov/41709110/). *J Cachexia Sarcopenia Muscle*. [Epidemiology / Natural History]
Tifft CJ (2026). [PMID: 41108138](https://pubmed.ncbi.nlm.nih.gov/41108138/). *Genet Med*. [Clinical Trial Publication]
Cárdenas-Aguilera JG (2026). [PMID: 41519064](https://pubmed.ncbi.nlm.nih.gov/41519064/). *Mol Genet Metab*. [Review / Meta-Analysis]
Li Y (2026). [PMID: 41381017](https://pubmed.ncbi.nlm.nih.gov/41381017/). *Gene*. [Review / Meta-Analysis]
Erskine D (2026). [PMID: 40244388](https://pubmed.ncbi.nlm.nih.gov/40244388/). *J Neural Transm (Vienna)*. [Review / Meta-Analysis]
AI-curated news mentioning PSAP-related sphingolipidosis
Updated May 19, 2026
UCB reports positive trial outcomes for bimekizumab, demonstrating head-to-head superiority in joint endpoints against an approved biologic for psoriatic arthritis. This positions bimekizumab as a strong contender in the PsA treatment landscape.