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Annals of Clinical and Translational Neurology|December 7, 2020
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafnessFrancesca Nardecchia, Agnese De Giorgi, Flavia Palombo, et al.
American Journal of Medical Genetics. Part A|July 9, 2026
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related DisorderDaniel Charouf, Andrea Accogli, Fadi F Hamdan, et al.
Brain & Development|January 1, 2013
Metabolic epilepsy: an updateLaura Papetti, Pasquale Parisi, Vincenzo Leuzzi, et al.
Molecular Genetics and Metabolism|August 19, 2015
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term studyMario Mastrangelo, Flavia Chiarotti, Luana Berillo, 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.
Journal of Clinical Medicine|April 27, 2024
Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic DiseasesValentina Baglioni, Fabiola Bozza, Giuliana Lentini, et al.
Orphanet Journal of Rare Diseases|November 30, 2019
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levelsCristina Romani, Filippo Manti, Francesca Nardecchia, et al.
Molecular Genetics and Metabolism|March 23, 2025
The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuriaFilippo Manti, Emanuele Di Carlo, Silvia Santagata, 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.
Parkinsonism & Related Disorders|October 20, 2018
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonismFilippo Manti, Francesca Nardecchia, Sabina Barresi, et al.
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