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Author

Elena Procopio

2 papers indexed here

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Review Open access Sep 2026

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study

Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...

Luisa Semmler, B. Büchner, C. Kornblum 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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