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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot M, Tran ML, Génisson Y, Ballereau S, Dehoux C.
PMID: 34885805
Molecules. 2021 Nov 29;26(23). doi: 10.3390/molecules26237223.

Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in cardiac, smooth and...

Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot M, Tran ML, Génisson Y, Ballereau S, Dehoux C.
PMID: 34885805
Molecules. 2021 Nov 29;26(23). doi: 10.3390/molecules26237223.

Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in cardiac, smooth and...

Showing 1 to 2 of 2 entries