Claudia Carducci | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
New findings about neuropathological outcomes in the PKU mouse throughout lifespan	MOLECULAR GENETICS AND METABOLISM	2024
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation	NEUROBIOLOGY OF DISEASE	2023
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
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency	PARKINSONISM & RELATED DISORDERS	2022
Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency	GENES	2021
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency	JOURNAL OF CHROMATOGRAPHY. B	2021
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism	PARKINSONISM & RELATED DISORDERS	2020
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria	MOLECULAR GENETICS AND METABOLISM REPORTS	2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients	MOLECULAR GENETICS AND METABOLISM	2020
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.	NUTRIENTS	2020
Clinical characterization of tremor in patients with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2019
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels	ORPHANET JOURNAL OF RARE DISEASES	2019
Newborn screening for homocystinurias: Recent recommendations versus current practice	JOURNAL OF INHERITED METABOLIC DISEASE	2019
A new therapy prevents intellectual disability in mouse with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2018
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test	METHODS AND PROTOCOLS	2018
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome	MOVEMENT DISORDERS CLINICAL PRACTICE	2018
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency	ACTA PAEDIATRICA	2018
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot	CLINICA CHIMICA ACTA	2017