Publications by authors named "Vincenzo Leuzzi"

100Publications

"Protenuria in SLE: Is it always lupus?"

Lupus 2021 Jan 7:961203320983458. Epub 2021 Jan 7.

Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy.

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January 2021

The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.

Curr Med Res Opin 2020 Nov 23. Epub 2020 Nov 23.

Metabolic Diseases Department, Clinical Genetics and Diabetology, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.

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November 2020

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood.

Neurol Genet 2020 Oct 8;6(5):e510. Epub 2020 Sep 8.

Child Neurology and Psychiatry Unit (M.M., F.M., M.T.G., V.L.), Department of Human Neuroscience, Sapienza University of Rome, Italy; and Neuroscience and Neurogenetics Excellence Centre (R.G.), Anna Meyer Children's Hospital, Florence, Italy.

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October 2020

Parkinsonism in children: Clinical classification and etiological spectrum.

Parkinsonism Relat Disord 2021 Jan 21;82:150-157. Epub 2020 Oct 21.

Department of Human Neuroscience, Sapienza University of Rome, Italy.

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January 2021

-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Int J Mol Sci 2020 Aug 13;21(16). Epub 2020 Aug 13.

Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.

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August 2020

Multiple sclerosis and intracellular cobalamin defect (/) comorbidity in a young male.

Mol Genet Metab Rep 2020 Mar 7;22:100560. Epub 2020 Jan 7.

Sapienza University of Rome, Department of Human Neuroscience, Rome, Italy.

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March 2020

Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.

Mov Disord Clin Pract 2020 Feb 4;7(2):154-166. Epub 2020 Feb 4.

Department of Human Neuroscience Sapienza University Rome Italy.

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February 2020

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With Variant.

Mov Disord Clin Pract 2020 Jan 21;7(1):118-119. Epub 2019 Nov 21.

Department of Human Neuroscience Sapienza University of Rome Rome Italy.

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January 2020

The expanding spectrum of movement disorders in genetic epilepsies.

Dev Med Child Neurol 2020 02 29;62(2):178-191. Epub 2019 Nov 29.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, UK.

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February 2020

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels.

Orphanet J Rare Dis 2019 11 28;14(1):273. Epub 2019 Nov 28.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.

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November 2019

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Parkinsonism Relat Disord 2019 11 28;68:8-16. Epub 2019 Sep 28.

Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA, USA; Division of Neurology Rady Children's Hospital, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. Electronic address:

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November 2019

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

Parkinsonism Relat Disord 2019 11 18;68:1-3. Epub 2019 Sep 18.

Division of Child Neurology and Infantile Psychiatry, Department of Neuroscience, Sapienza University of Rome, Italy. Electronic address:

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November 2019

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines.

J Med Genet 2020 03 4;57(3):145-150. Epub 2019 Sep 4.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, Netherlands.

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March 2020

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mol Genet Metab Rep 2019 Dec 21;21:100502. Epub 2019 Aug 21.

Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

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December 2019

Clinical characterization of tremor in patients with phenylketonuria.

Mol Genet Metab 2019 Sep - Oct;128(1-2):53-56. Epub 2019 Jun 3.

Department of Human Neuroscience, Sapienza University of Rome, Italy. Electronic address:

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April 2020

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

Mol Genet Metab 2019 06 10;127(2):132-137. Epub 2019 May 10.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address:

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June 2019

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Mol Genet Metab 2019 05 27;127(1):12-22. Epub 2019 Mar 27.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany. Electronic address:

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May 2019

Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.

Mov Disord Clin Pract 2018 Jul-Aug;5(4):446-447. Epub 2018 May 12.

Pediatric Neurology Division, Department of Human Neuroscience Sapienza University of Rome Italy.

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May 2018

Clinical and Biochemical Features in a Patient With Gene Alteration.

Front Genet 2018 7;9:625. Epub 2018 Dec 7.

Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

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December 2018

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Eur J Med Genet 2019 Dec 27;62(12):103591. Epub 2018 Nov 27.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:

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December 2019

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.

Acta Paediatr 2019 03 27;108(3):564-565. Epub 2018 Nov 27.

Department of Human Neurosciences, Unit of Infantile Neurology and Psychiatry, University of Rome 'La Sapienza', Rome, Italy.

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March 2019

PRICKLE1-related early onset epileptic encephalopathy.

Am J Med Genet A 2018 12 22;176(12):2841-2845. Epub 2018 Oct 22.

Department of Human Neuroscience, "Sapienza, University of Rome", Rome, Italy.

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December 2018

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism Relat Disord 2019 04 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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April 2019

Living with phenylketonuria in adulthood: The PKU ATTITUDE study.

Mol Genet Metab Rep 2018 Sep 11;16:39-45. Epub 2018 Jul 11.

Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Woman's and Child's Health - University Hospital, Padova, Italy.

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September 2018

Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.

Neurol Genet 2018 Apr 27;4(2):e228. Epub 2018 Mar 27.

Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome "La Sapienza"; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino "Carlo Bo," Italy.

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April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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November 2017

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.

J Inherit Metab Dis 2017 11 23;40(6):793-799. Epub 2017 Aug 23.

Department of Pediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.

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November 2017

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.

Mol Cell Biochem 2018 Jan 25;438(1-2):153-166. Epub 2017 Jul 25.

Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Via Saffi 2, 61029, Urbino, PU, Italy.

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January 2018

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.

Orphanet J Rare Dis 2017 07 5;12(1):126. Epub 2017 Jul 5.

Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029, Urbino, PU, Italy.

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July 2017

Levodopa-Carbidopa Intestinal Gel in a Pediatric Parkinsonism-plus Syndrome.

Mov Disord Clin Pract 2017 Sep-Oct;4(5):791-792. Epub 2017 Jun 29.

Istituto di Neurologia Università Cattolica del Sacro Cuore Fondazione Policlinico Universitario Agostino Gemelli Rome Italy.

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June 2017

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.

Eur J Pediatr 2017 Jul 24;176(7):917-924. Epub 2017 May 24.

Department of Pediatrics, Child Neurology and Psychiatry, SAPIENZA University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.

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July 2017

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

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April 2017

Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot.

Clin Chim Acta 2017 Mar 18;466:145-151. Epub 2017 Jan 18.

Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address:

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March 2017

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B.

Neurology 2017 01 30;88(5):501-502. Epub 2016 Dec 30.

From the La Sapienza University of Rome (V.L., M.M., M.T.G., R.C.), Italy; and University of Heidelberg (G.F.H.), Germany.

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January 2017

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Brain Dev 2017 Feb 14;39(2):182-183. Epub 2016 Sep 14.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address:

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February 2017

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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June 2016

Erythrocyte-mediated delivery of recombinant enzymes.

J Inherit Metab Dis 2016 07 30;39(4):519-30. Epub 2016 Mar 30.

Department of Biomolecular Science, University of Urbino, Via Saffi 2, 61029, Urbino, PU, Italy.

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July 2016

Psychiatric disorders in adolescent and young adult patients with phenylketonuria.

Mol Genet Metab 2016 Jan 14;117(1):12-8. Epub 2015 Nov 14.

Department of Child and Adolescent Neuropsychiatry, SAPIENZA University of Rome, Via dei Sabelli 108, 00185 Rome, Italy. Electronic address:

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January 2016

Development of global rating instruments for pediatric patients with ataxia telangiectasia.

Eur J Paediatr Neurol 2016 Jan 25;20(1):140-6. Epub 2015 Sep 25.

Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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January 2016

Severe early onset ethylmalonic encephalopathy with West syndrome.

Metab Brain Dis 2015 Dec 21;30(6):1537-45. Epub 2015 Jul 21.

Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.

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December 2015

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.

Mol Genet Metab 2015 Aug 25;115(4):157-60. Epub 2015 Jun 25.

Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy. Electronic address:

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August 2015

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study.

Mol Genet Metab 2015 Jun-Jul;115(2-3):84-90. Epub 2015 Apr 29.

Department of Pediatrics and Child and Adolescent Neuropsychiatry, SAPIENZA University of Rome, Via dei Sabelli 108, 00185 Rome, Italy. Electronic address:

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March 2016

Acute psychosis in an adolescent with undiagnosed homocystinuria.

Eur J Pediatr 2015 Sep 5;174(9):1263-6. Epub 2015 May 5.

Child Neurology and Psychiatry, Policlinico Umberto I Roma Sapienza, Rome, Italy,

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September 2015

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Neurol Neuroimmunol Neuroinflamm 2015 Jun 9;2(3):e98. Epub 2015 Apr 9.

Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D., T.V.), Department of Molecular Medicine (I.Q.), and Department of Clinical and Molecular Medicine (L.C.), Sapienza University of Rome, Italy; Unit of Child Neurology and Psychiatry (R.M., E.F.), Department of Clinical and Experimental Sciences, Pediatrics Clinic (A.P., A.S., M. Marini, P.F.L.), and Institute of Molecular Medicine A. Nocivelli (A.P., A.S., M. Marini, P.F.L.), Spedali Civili and University of Brescia, Brescia, Italy; School in Reproductive and Developmental Science (A.M.), University of Trieste and University of Brescia, Brescia, Italy; Department of Pediatrics (M.C.P.), University of Milan, Fondazione IRCCS Ca' Granda, Milan, Italy; Department of Pediatrics (A.F.), Bambino Gesù Children's Hospital and University of Tor Vergata, Rome, Italy; Department of Biomolecular Sciences (M. Magnani), University of Urbino "Carlo Bo," Urbino, Italy; and EryDel SpA (M. Magnani), Urbino, Italy.

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June 2015

A novel mouse model of creatine transporter deficiency.

F1000Res 2014 29;3:228. Epub 2014 Sep 29.

Institute of Neuroscience, National Research Council (CNR), Pisa, I-56124, Italy ; Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, Florence, I-50135, Italy.

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December 2014

Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD).

J Neurol 2014 Nov 3;261(11):2204-8. Epub 2014 Sep 3.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy,

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November 2014

Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.

J Control Release 2014 Nov 23;194:37-44. Epub 2014 Aug 23.

Department of Biomolecular Sciences, University of Urbino "Carlo Bo" via Saffi 2, 61029 Urbino (PU), Italy; EryDel SpA, via Sasso 36, 61029 Urbino (PU), Italy. Electronic address:

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November 2014

Teaching video neuroimages: clinical course of infantile ascending hereditary spastic paralysis.

Neurology 2014 Feb;82(7):e61

From the Division of Child Neurology (M.M., P.D.L., C.C., S.B., V.L.), Department of Pediatrics, Child Neurology and Psychiatry, "Sapienza" University of Rome; and Neurology IV-Neuromuscular Diseases and Neuroimmunology Unit (P.B.), Neurological Institute Foundation "Carlo Besta," Milan, Italy.

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February 2014

Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia.

PLoS One 2013 20;8(12):e84697. Epub 2013 Dec 20.

Dipartimento di Psicologia and Centro "Daniel Bovet", Sapienza - Università di Roma, Roma, Italy ; Fondazione Santa Lucia, IRCCS, Roma, Italy.

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October 2014

Very early pattern of movement disorders in sepiapterin reductase deficiency.

Neurology 2013 Dec 8;81(24):2141-2. Epub 2013 Nov 8.

From the Department of Pediatrics and Child Neurology and Psychiatry (V.L., M.T.G.); Department of Experimental Medicine (Claudia Carducci, M.T., Carla Carducci); and Department of Molecular Medicine (A.A.), Sapienza Università di Roma, Rome, Italy.

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December 2013

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6.

Mov Disord 2014 Feb 22;29(2):277-8. Epub 2013 Oct 22.

Department of Paediatrics, Child Neurology and Psychiatry, Sapienza Universitá di Roma, Rome, Italy.

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February 2014

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Eur J Med Genet 2013 Oct 27;56(10):570-6. Epub 2013 Aug 27.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address:

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October 2013

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

Adv Ther 2013 Mar 20;30(3):212-28. Epub 2013 Feb 20.

Reference Center for Neonatal Screening and Diagnosis for Metabolic Diseases of University-Istituto Giannina Gaslini, Via 5 maggio, 3916147 Genoa, Italy.

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March 2013

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

JIMD Rep 2013 18;7:67-75. Epub 2012 Apr 18.

Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Università di Roma, Via dei Sabelli 108, 00185, Roma, Italy,

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February 2013

Metabolic epilepsy: an update.

Brain Dev 2013 Oct 27;35(9):827-41. Epub 2012 Dec 27.

Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, Italy.

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October 2013

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.

Brain Dev 2013 Aug 22;35(7):675-80. Epub 2012 Nov 22.

Department of Child Neurology and Psychiatry, Sapienza University of Rome, Italy.

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August 2013