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Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

F. Menni

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2 papers indexed here

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Review Open access Oct 2026

Genetic syndromes and metabolic diseases: weighting their clinical convergence in the pediatric setting

Neurodevelopmental disorders, hypotonia, microcephaly or macrocephaly, poor growth and distinctive facial traits are some of the most common reasons to refer a child to an expert consultant. But which expert? A priori response might not be always predictable. Clinical experience teaches that it is not unusual to...

Giulia Bruna Marchetti, F. Tagliaferri, Francesca Furlan 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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