Hospital Sant Joan de Déu Barcelona

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...

Partial symptom remission in occupational pesticide-related parkinsonism: a case report

Parkinson’s disease (PD) is a progressive neurodegenerative disorder in which environmental exposures, particularly pesticides, are increasingly recognized as relevant risk factors. Chronic occupational pesticide exposure has been associated with increased PD risk, yet clinical i...

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,...