Filippo Manti
Rome, Italy
Last Updated: 09/26/2026
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Found 63 publications
Follow-up and outcome of patients with primary BH4 deficiencies.
Journal: Frontiers in neurology
Published: January 21, 2026
Potential impact of early pharmacological treatment on gene therapy outcomes in AADC deficiency.
Journal: Parkinsonism & related disorders
Published: December 26, 2025
Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.
Journal: Children (Basel, Switzerland)
Published: September 29, 2025
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 01, 2025
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Journal: Genetics in medicine open
Published: May 05, 2025
The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defect.
Journal: Parkinsonism & related disorders
Published: January 28, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Journal: Neurology. Genetics
Published: January 28, 2025
Developmental Patterns in Autism and Other Neurodevelopmental Disorders in Preschool Children.
Journal: Children (Basel, Switzerland)
Published: December 30, 2024
The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria.
Journal: Molecular genetics and metabolism
Published: October 31, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: July 12, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
Journal: European journal of human genetics : EJHG
Published: May 27, 2024
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Journal: Movement disorders clinical practice
Published: April 18, 2024
Last Updated: 09/26/2026