Claudia Carducci
Rome, 00185, Italy
Last Updated: 09/26/2026
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Found 63 publications
GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.
Journal: International journal of molecular sciences
Published: October 15, 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
Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.
Journal: International journal of neonatal screening
Published: August 04, 2025
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiency.
Journal: Epilepsia
Published: April 07, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 29, 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
The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria.
Journal: Molecular genetics and metabolism
Published: October 31, 2024
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Journal: Movement disorders clinical practice
Published: April 18, 2024
New findings about neuropathological outcomes in the PKU mouse throughout lifespan.
Journal: Molecular genetics and metabolism
Published: April 16, 2024
Last Updated: 09/26/2026