Luis González Gutiérrez-Solana
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Metabolism and Genetic Disorders, Trypanosoma species research and implications, Epilepsy research and treatment
Most-Cited Works
- → Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy(2011)154 cited
- → Leigh Syndrome Associated With Mitochondrial Complex I Deficiency Due to a Novel Mutation in the NDUFS1 Gene(2005)78 cited
- → Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients(2019)61 cited
- → Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study(2022)48 cited
- → 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)(2010)44 cited
- → Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant(2011)37 cited
- → A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder(2018)33 cited
- → Vanishing White Matter Disease in a Spanish Population(2014)27 cited
- → Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II(2022)24 cited
- → Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis(2011)24 cited