Luis González Gutiérrez-Solana

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Jennifer Friedman, Emmanuel Roze, José E. Abdenur et al. · Annals of Neurology · 2011 · 154 citations

Leigh Syndrome Associated With Mitochondrial Complex I Deficiency Due to a Novel Mutation in the NDUFS1 Gene

Miguel A. Martı́n, Alberto Blázquez, Luis González Gutiérrez-Solana et al. · Archives of Neurology · 2005 · 78 citations

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 60 citations · Full text

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

Joseph Muenzer, Barbara K. Burton, Paul Harmatz et al. · Molecular Genetics and Metabolism · 2022 · 47 citations · Full text

Pathology, Intrathecal Idursulfase-it, Neurology +5

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

Carlos Alcalde Martín, J.M. Muro-Tudelilla, Ramón Cancho‐Candela et al. · European Journal of Medical Genetics · 2010 · 44 citations

Enzyme Replacement Therapy, Inherited Metabolic Disease, Pathology +3