Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

Evidence found in paper:

"We thank Dr. Arnold J. J. Reuser for his critical review of the manuscript and Ton Verkerk for his invaluable assistance with generating the database. We thank Philip Lijnzaad for his help with the statistical analysis. This study was supported by grants from the Administrative Department of Science, Technology and Innovation (Colciencias, Colombia) and Sanofi Genzyme. The collaboration project is co‐funded by the PPP Allowance made available by Health‐Holland, Top Sector Life Sciences & Health, to the Prinses Beatrix Spierfonds to stimulate public–private partnerships (project numbers: LSHM17075 and LSHM19015). Research on Pompe disease at Erasmus MC is financially supported by “Prinses Beatrix Spierfonds” (project numbers: W.OR13‐21, W.OR15‐10, W.OR16‐07); Tex Net; Sophia Foundation for Medical Research (SSWO) (project number: s17‐32); Metakids (project number: 2016‐063); Conselho Nacional de Desenvolvimento Científico e Tecnológico–“National Counsil of Technological and Scientific Development,” Brasil (grant number: 234407/2014‐0); Colciencias and Sanofi Genzyme. Ans T. van der Ploeg has provided consulting services for various industries in the field of Pompe disease under an agreement between these industries and Erasmus MC, Rotterdam, The Netherlands."

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Last Updated: Aug 05, 2025