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Article

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.

International journal of molecular sciences - 23 Aug 2024

Moschetti Marta, Lo Curto Alessia, Giacomarra Miriam, Francofonte Daniele, Zizzo Carmela, Messina Elisa, Duro Giovanni, Colomba Paolo

Abstract excerpt

Studying a patient with Pompe disease (PD) is like opening Pandora's box. The specialist is faced with numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden and none is associated with this rare disease. In recent years, scientific interest in this disease has been growing more and more, but still no symptom is recognized as key to a correct diagnosis of it,...

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PMID: 39273088
DOI: 10.3390/ijms25179139
PMCID: PMC11394944

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