Publications by authors named "Cecilia Jiminez-Moreno"
Article Synopsis
- - This study observed 72 children with Leigh syndrome to track disease progression and identify factors influencing their condition over time, using the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS).
- - Results showed a significant worsening in the children's overall health, with the median NPMDS scores increasing and the percentage of those experiencing severe disease burden doubling over 2.6 years; many children became more reliant on assistance for mobility and care.
- - Key factors associated with poorer outcomes included specific genetic mutations (especially in the SURF1 gene) and distinct brain changes on scans, highlighting important areas for future research and patient management.
