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Open access Jul 2026

When rare diseases do not appear as a single entity

Abstract Objectives The coexistence of multisystemic involvement in a young adult raises the need to consider rare metabolic and mitochondrial disorders. We report a case of late-onset propionic acidemia (PPA) that may have contributed to unmasking Leber hereditary optic neuropathy (LHON), an extremely infrequent assoc...

I. Solares, E. Alegre, Inmaculada Colina et al. · 0 citations

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