An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
Author:
Funder
Sanofi
ASPIRE
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41598-024-72259-5.pdf
Reference29 articles.
1. Al-Hassnan, Z. et al. Correction: Expert Group Consensus on early diagnosis and management of infantile-onset Pompe disease in the Gulf Region. Orphanet J. Rare Dis. 17, 1. https://doi.org/10.1186/s13023-022-02545-w (2022).
2. Al-Hassnan, Z. et al. Correction: Expert Group Consensus on early diagnosis and management of infantile-onset Pompe disease in the Gulf Region. Orphanet J. Rare Dis. 18, 365. https://doi.org/10.1186/s13023-023-02967-0 (2023).
3. Al Jasmi, F. et al. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: Consensus recommendations from an expert group. BMC Neurol. 15, 205. https://doi.org/10.1186/s12883-015-0412-3 (2015).
4. Alonso-Pérez, J. et al. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease. Med. Clínica (English Ed.) 154, 80–85. https://doi.org/10.1016/j.medcle.2019.03.034 (2020).
5. Zhao, Y. et al. Characteristics of Pompe disease in China: A report from the Pompe registry. Orphanet J. Rare Dis. 14, 78. https://doi.org/10.1186/s13023-019-1054-0 (2019).
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