Vincenzo Leuzzi

Pubblicazioni

Titolo Pubblicato in Anno
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? JIMD REPORTS 2015
Acute psychosis in an adolescent with undiagnosed homocystinuria EUROPEAN JOURNAL OF PEDIATRICS 2015
Severe early onset ethylmalonic encephalopathy with west syndrome METABOLIC BRAIN DISEASE 2015
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia NEUROLOGY® NEUROIMMUNOLOGY & NEUROINFLAMMATION 2015
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study MOLECULAR GENETICS AND METABOLISM 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency MOLECULAR GENETICS AND METABOLISM 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs JOURNAL OF THE NEUROLOGICAL SCIENCES 2015
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome EUROPEAN JOURNAL OF HUMAN GENETICS 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome NATURE GENETICS 2015
Psychiatric disturbances in adolescent and adult phenylketonuric patients JOURNAL OF INHERITED METABOLIC DISEASE 2015
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene JOURNAL OF INHERITED METABOLIC DISEASE 2015
The effects of tetrahydrobiopterin (BH4) treatment on cerebral metabolism in phenylketonuric mice JOURNAL OF INHERITED METABOLIC DISEASE 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency JOURNAL OF INHERITED METABOLIC DISEASE 2015
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation HUMAN MUTATION 2015
The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism JOURNAL OF PEDIATRIC NEUROLOGY 2015

Progetti di Ricerca

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

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