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Biomarker and diagnostic research for chronic neurovisceral acid sphingomyelinase deficiency has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for chronic neurovisceral acid sphingomyelinase deficiency.
24 publications have been identified in PubMed for chronic neurovisceral acid sphingomyelinase deficiency. Research spans Epidemiology / Natural History (33%), Review / Meta-Analysis (21%), and Diagnostic / Biomarker (13%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 8 | 33% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC
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Common questions about chronic neurovisceral acid sphingomyelinase deficiency
Research summaries |
5 |
21% |
Testing and diagnosis research | 3 | 13% |
Clinical study results | 3 | 13% |
Patient case studies | 2 | 8% |
New treatment approaches | 2 | 8% |
Laboratory research | 1 | 4% |
Hu M (2026). [PMID: 41402213](https://pubmed.ncbi.nlm.nih.gov/41402213/). *Journal of clinical lipidology*. [Epidemiology / Natural History]
Pan YW (2026). [PMID: 42028314](https://pubmed.ncbi.nlm.nih.gov/42028314/). *Mol Genet Metab Rep*. [Epidemiology / Natural History]
Lin HH (2026). [PMID: 41692468](https://pubmed.ncbi.nlm.nih.gov/41692468/). *Molecular genetics & genomic medicine*. [Epidemiology / Natural History]
Deng HX (2026). [PMID: 42206050](https://pubmed.ncbi.nlm.nih.gov/42206050/). *Front Immunol*. [Review / Meta-Analysis]
Kakiuchi T (2026). [PMID: 41798938](https://pubmed.ncbi.nlm.nih.gov/41798938/). *Frontiers in immunology*. [Case Report / Case Series]
Wasserstein MP (2026). [PMID: 42047222](https://pubmed.ncbi.nlm.nih.gov/42047222/). *J Inherit Metab Dis*. [Clinical Trial Publication]
Antonello BB (2026). [PMID: 40974024](https://pubmed.ncbi.nlm.nih.gov/40974024/). *American journal of medical genetics. Part A*. [Review / Meta-Analysis]
Silva Alves T (2025). [PMID: 41076598](https://pubmed.ncbi.nlm.nih.gov/41076598/). *Drugs*. [Gene Therapy / Novel Therapeutics]
Gulten ZA (2025). [PMID: 41573607](https://pubmed.ncbi.nlm.nih.gov/41573607/). *Sisli Etfal Hastanesi tip bulteni*. [Epidemiology / Natural History]
Scarpa M (2025). [PMID: 40937531](https://pubmed.ncbi.nlm.nih.gov/40937531/). *Journal of inherited metabolic disease*. [Clinical Trial Publication]
AI-curated news mentioning chronic neurovisceral acid sphingomyelinase deficiency
Updated Aug 19, 2026
A new study highlights the use of multiplex MSMS measurement of lysosomal enzymes for the incidental diagnosis of acid sphingomyelinase deficiency in patients being evaluated for Gaucher disease. This method could enhance diagnostic accuracy and patient management.
A recent case study highlights the complexities of acid sphingomyelinase deficiency (ASMD) in an asplenic patient, presenting severe interstitial lung disorder. This case underscores the need for further research into the respiratory complications associated with ASMD.
A single-center study in Taiwan reports significant improvements in quality of life and general functions for pediatric patients with acid sphingomyelinase deficiency after treatment with olipudase alfa. This research highlights the potential benefits of this therapy in managing the disease.