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Article

Nystagmus in Infantile Pompe Disease: a new feature?

Acta bio-medica : Atenei Parmensis - 7 Sept 2020

Turco Emanuela Claudia, Facini Carlotta, Piccolo Benedetta, Pisani Francesco

Abstract excerpt

We describe a 3 month-old female floppy infant with hypertrophic cardiomyopathy, serum enzyme levels, which were characterized by an aspartate aminotransferase level of 144 U/l, alanine transaminase 240 U/L and creatine kinase level of 543 U/l. On the basis of the clinical signs and laboratory results, acid α-glucosidase activity was determined from dried blood spots resulting lower than the normal range (0.2...

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Identifiers

PMID: 32921779
DOI: 10.23750/abm.v91i3.8366
PMCID: PMC7716971

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