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Brain & Development|November 27, 2012
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatmentAndrea Celato, Chiara Mitola, Manuela Tolve, et al.
Parkinsonism & Related Disorders|September 12, 2022
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiencyFilippo Manti, Mario Mastrangelo, Roberta Battini, et al.
International Journal of Neonatal Screening|September 22, 2025
Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid AssessmentFrancesca Nardecchia, Agnese De Giorgi, Silvia Santagata, et al.
Methods and Protocols|June 6, 2019
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping TestManuela Tolve, Cristiana Artiola, Amelia Pasquali, et al.
International Journal of Molecular Sciences|December 11, 2025
GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical DevelopmentsSara Biagiotti, Elena Perla, Serafina Manila Guzzo, et al.
Movement Disorders Clinical Practice|July 13, 2024
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and OutcomesMaria Novelli, Manuela Tolve, Vicente Quiroz, et al.
Seizure|June 8, 2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort studyMario Mastrangelo, Carlo Greco, Manuela Tolve, et al.
Molecular Genetics and Metabolism|August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutationMartino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Data in Brief|January 31, 2018
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
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