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Insight to variability of onset in Pompe

“Pompe Disease News” reports on a new genetic variant which may help explain the variability of symptom onset in Pompe disease.

Read the story on Pompe Disease News.

Read the research paper in EBioMedicine.

“This is an interesting discovery explaining the variability of symptoms in Pompe. Great work from the Erasmus Medical Centre and the European Pompe Consortium (EPOC).”

Allan Muir
AGSD-UK Charity Director