Francesca Nardecchia

Pubblicazioni

Titolo Pubblicato in Anno
The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria MOLECULAR GENETICS AND METABOLISM 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) HUMAN MUTATION 2025
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey ORPHANET JOURNAL OF RARE DISEASES 2025
The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defect PARKINSONISM & RELATED DISORDERS 2025
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism JOURNAL OF LIPID RESEARCH 2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 2024
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights MOLECULAR GENETICS AND METABOLISM 2024
Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases JOURNAL OF CLINICAL MEDICINE 2024
Biallelic variants of MRPS36 cause a new form of Leigh syndrome MOVEMENT DISORDERS 2024
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review MOLECULAR GENETICS AND METABOLISM 2023
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans FRONTIERS IN MOLECULAR NEUROSCIENCE 2023
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria MOLECULAR GENETICS AND METABOLISM 2023
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient MOVEMENT DISORDERS CLINICAL PRACTICE 2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments PARKINSONISM & RELATED DISORDERS 2023
Metabolic control and clinical outcome in adolescents with phenylketonuria MOLECULAR GENETICS AND METABOLISM 2023
Looking back at the neonatal period in early-treated phenylketonuric patients PEDIATRIC RESEARCH 2022
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT 2022
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience INTERNATIONAL JOURNAL OF NEONATAL SCREENING 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease GENETICS IN MEDICINE 2022

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