Gene · 2548
Papers2,709
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
101 to 120 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. | Ital J Pediatr | 2025 | 40846960 | PubTator, text mining | PubMed |
| Determination of the Epitopes of Alpha-Glucosidase Anti-Drug Antibodies in Pompe Disease Patient Plasma Samples. | Antibodies (Basel) | 2025 | 40843676 | PubTator, text mining | PubMed |
| Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis. | Orphanet J Rare Dis | 2025 | 40842017 | PubTator, text mining | PubMed |
| LENG8 mediates RNA nuclear retention and degradation in eukaryotes. | bioRxiv | 2025 | 40832163 | PubTator, text mining | PubMed |
| Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. | J Neurol | 2025 | 40817977 | PubTator, text mining | PubMed |
| Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19. | J Med Virol | 2025 | 40817859 | PubTator, text mining | PubMed |
| Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease. | Sci Rep | 2025 | 40813881 | PubTator, text mining | PubMed |
| Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review. | Clin Med Insights Pediatr | 2025 | 40801056 | PubTator, text mining | PubMed |
| Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models. | Commun Med (Lond) | 2025 | 40745475 | PubTator, text mining | PubMed |
| Unraveling mitochondrial crosstalk: a new frontier in heart failure pathogenesis. | Front Cardiovasc Med | 2025 | 40734976 | PubTator, text mining | PubMed |
| Pompe Disease: Current State and Future Treatments. | Cardiol Rev | 2025 | 40600696 | PubTator, text mining | PubMed |
| AAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease. | N Engl J Med | 2025 | 40561529 | PubTator, text mining | PubMed |
| Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program. | Int J Neonatal Screen | 2025 | 40559185 | PubTator, text mining | PubMed |
| Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. | Int J Neonatal Screen | 2025 | 40559181 | PubTator, text mining | PubMed |
| Successful Pregnancy Outcome in Patient with Pompe Disease Despite Discontinuation of Enzyme Replacement Therapy. | Eur J Case Rep Intern Med | 2025 | 40502951 | PubTator, text mining | PubMed |
| Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia. | Brain Commun | 2025 | 40488180 | PubTator, text mining | PubMed |
| The impact of VUS reclassification on reproductive decision making. | PLoS One | 2025 | 40424322 | PubTator, text mining | PubMed |
| Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness. | Clin Neurol Neurosurg | 2025 | 40359611 | PubTator, text mining | PubMed |
| Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review. | Orphanet J Rare Dis | 2025 | 40329343 | PubTator, text mining | PubMed |
| Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers. | Mol Neurobiol | 2025 | 40299299 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this list from software.
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GET https://conductscience.org/api/genes/v1/2548/papers?page=6