Luis G. Solana-Gutierrez
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 39 publications
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.
Journal: JIMD reports
Published: May 22, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Journal: Journal of inherited metabolic disease
Published: May 07, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Journal: Journal of clinical immunology
Published: April 30, 2024
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Journal: Molecular genetics and metabolism
Published: August 04, 2023
Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II".
Journal: Molecular genetics and metabolism
Published: July 30, 2023
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
Journal: Orphanet journal of rare diseases
Published: April 14, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Journal: Genome medicine
Published: February 08, 2023
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Journal: The Journal of clinical investigation
Published: June 17, 2022
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
Journal: Molecular genetics and metabolism
Published: April 07, 2022
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Journal: Molecular genetics and metabolism
Published: April 07, 2022
Efficacy of Brivaracetam in children with epilepsy.
Journal: Epilepsy research
Published: January 20, 2021
Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case.
Journal: Neurodegenerative disease management
Published: May 01, 2020
Last Updated: 09/26/2026