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H. Pachajoa

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Review Open access Oct 2026

Fatal Neonatal mTORopathy: Expanding the Phenotypic Spectrum of RRAGC-Associated Long-Olsen-Distelmaier Syndrome.

Dilated cardiomyopathy (DCM) is a severe cardiac condition characterized by the enlargement and impaired contraction of the heart's ventricles. Pediatric cases often present unique challenges due to their rarity and the complexity of underlying genetic causes. This study presents the first documented case of a Colombia...

J. Lores, Valentina Botia-Arciniegas, Diana Ramírez-Montaño et al. · 0 citations
Open access Sep 2026

Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort

The Colombian cohort shows a relatively early diagnosis but a high burden of structural sequelae (bronchiectasis), suggesting a need to optimize immunoglobulin replacement therapy, and represents the most robust characterization of XLA in Colombia.

Manuela Olaya Hernández, Jacobo Triviño Arias, Oriana Arias Valderrama et al. · 0 citations

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