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M. C. Faraguna

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Open access Aug 2026

Case Report: A diagnostic algorithm for pediatric cholelithiasis: recognizing underlying hemolytic anemia through a case of hereditary spherocytosis

Pediatric cholelithiasis is increasingly encountered in clinical practice, largely driven by the rising prevalence of obesity. However, chronic hemolytic disorders remain a significant and potentially underrecognized cause, particularly when presenting with mild or compensated forms. In such cases, gallstones may repre...

Marialetizia Fantasia, M. C. Faraguna, Riccardo Pagani et al. · 0 citations
Open access Sep 2026

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease

The findings suggest a potential increased frequency of seizures in classic infantile Pompe disease in comparison with unaffected children, occurring predominantly after the age of 7, and that epilepsy is part of the CNS phenotype.

M. C. Faraguna, Alexander Broomfield, S. Gasperini et al. · 0 citations

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