Angeles Cazorla-Garcia
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 53 publications
Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.
Journal: Journal of inherited metabolic disease
Published: June 02, 2026
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Journal: Frontiers in cell and developmental biology
Published: March 06, 2026
Connections between physics and metabolism in brain functions.
Journal: iScience
Published: February 05, 2026
Brain structure abnormalities in neurodevelopmental synaptopathies.
Journal: NeuroImage. Clinical
Published: January 27, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 31, 2025
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.
Journal: Neurobiology of disease
Published: September 15, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Journal: Neurology
Published: June 27, 2025
Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.
Journal: Journal of inherited metabolic disease
Published: June 16, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 31, 2025
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders.
Journal: Journal of inherited metabolic disease
Published: March 18, 2025
Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial.
Journal: EClinicalMedicine
Published: January 20, 2025
Last Updated: 09/26/2026