Mercedes Serrano

Protocol for a feasibility randomized controlled pilot trial evaluating a teacher program to support preschool children with autism and language delay

Abstract Background Early intervention in naturalistic settings is essential for supporting young children with difficulties within the autism spectrum. In recent decades, there has been an increasing inclusion of children with developmental problems in mainstream schools. Howeve...

Proteo‐Metabolomic Profiling of PMM2 ‐ CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo ‐Inositol, and the Hexosamine Pathway

ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways,...