Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders	EUROPEAN JOURNAL OF MEDICAL GENETICS	2018
Clinical and biochemical features in a patient with mitochondrial fission factor gene alteration	FRONTIERS IN GENETICS	2018
Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism	PARKINSONISM & RELATED DISORDERS	2018
Ataxia-telangiectasia. A new remitting form with a peculiar transcriptome signature	NEUROLOGY. GENETICS	2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome	NEPHROLOGY DIALYSIS TRANSPLANTATION	2018
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders	JOURNAL OF INHERITED METABOLIC DISEASE	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
GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome	Neurology: Genetics	2017
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial	ORPHANET JOURNAL OF RARE DISEASES	2017
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1	BRAIN & DEVELOPMENT	2017
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency	EUROPEAN JOURNAL OF PEDIATRICS	2017
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation	MOLECULAR GENETICS AND METABOLISM	2017
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients	JOURNAL OF INHERITED METABOLIC DISEASE	2017
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T	ORPHANET JOURNAL OF RARE DISEASES	2017
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)	DATA IN BRIEF	2017
The complete European guidelines on phenylketonuria: diagnosis and treatment	ORPHANET JOURNAL OF RARE DISEASES	2017
Presentazione atipica di neuropatia ottica di leber	ABSTRACT VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017	2017
Leucodistrofia metacromatica: un caso di pubertà precoce	ABSTRACT VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017	2017
Key European guidelines for the diagnosis and management of patients with phenylketonuria	THE LANCET DIABETES & ENDOCRINOLOGY	2017
Issues with European guidelines for phenylketonuria - Authors' reply	THE LANCET DIABETES & ENDOCRINOLOGY	2017

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