Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.	NUTRIENTS	2020
Parkinsonism in children: Clinical classification and etiological spectrum	PARKINSONISM & RELATED DISORDERS	2020
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY	2020
Erratum: PKU dietary handbook to accompany PKU guidelines (Orphanet Journal of Rare Diseases (2020) 15 (171) DOI: 10.1186/s13023-020-01391-y)	ORPHANET JOURNAL OF RARE DISEASES	2020
Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)	ORPHANET JOURNAL OF RARE DISEASES	2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome	GENETICS IN MEDICINE	2020
The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers	CURRENT MEDICAL RESEARCH AND OPINION	2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene	JOURNAL OF INHERITED METABOLIC DISEASE	2020
PKU dietary handbook to accompany PKU guidelines	ORPHANET JOURNAL OF RARE DISEASES	2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies	ORPHANET JOURNAL OF RARE DISEASES	2020
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant	EUROPEAN JOURNAL OF MEDICAL GENETICS	2020
Movement disorders - Childhood rating scale 4-18 revised in children with dyskinetic cerebral palsy	EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE	2020
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)	JOURNAL OF PEDIATRIC GENETICS	2020
Encefalopatia epilettica correlata al gene KCNQ2: outcome a lungo termine in una paziente con 29 anni di follow-up	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2020	2020
Validity and reliability of italian version of the non-communicating children's pain checklist. Revised version	EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE	2019
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review	PARKINSONISM & RELATED DISORDERS	2019
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder	PARKINSONISM & RELATED DISORDERS	2019
Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook	MOLECULAR GENETICS AND METABOLISM	2019
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies	MOLECULAR GENETICS AND METABOLISM	2019
Other single-gene disorders	The causes of epilepsy common and uncommon causes in adults and children	2019

Progetti di Ricerca

Study of brain vulnerability to phenylalanine in adults with early-treated phenylketonuria: assessment of executive functions and cerebral connectivity with respect to blood and brain phenylalanine
Study of serotoninergic system in phenylketonuria: insights from the ENU2 mouse model and early treated patients

Gruppi di ricerca - Responsabile

Piattaforma interattiva “Moduli Rosa” – Formazione e-learning specialistica per tutte le professionalità che a vario titolo entrano in contatto con i minori vittime di violenza assistita o con i minori orfani di crimini domestici