V. Leuzzi

发表

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

S. Seri, V. Leuzzi, M. Zollino, 2004, Neurology.

Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

N. Blau, A. Burlina, P. Strisciuglio, 2010, Clinical genetics.

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

F. Chiarotti, V. Leuzzi, C. Carducci, 2006, Journal of Inherited Metabolic Disease.

Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion

M. Tosetti, D. Montanaro, U. Salvolini, 2009, La radiologia medica.

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

I. Knerr, C. Klein, D. Karall, 2018, Journal of Inherited Metabolic Disease.

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

F. Cardona, V. Leuzzi, C. Carducci, 2002, Neurology.

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

M. Tosetti, G. Cioni, G. Cioni, 2011, Molecular genetics and metabolism.

Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria

M. Tosetti, M. Bianchi, C. Carducci, 2000, Journal of Inherited Metabolic Disease.

Newborn screening for homocystinurias: recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of Inherited Metabolic Disease.

Newborn screening for homocystinurias: Recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of inherited metabolic disease.

A new form of cerebral folate deficiency with severe self‐injurious behaviour

M. Mastrangelo, C. Carducci, A. Celato, 2012, Acta paediatrica.