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Items: 1 to 50 of 151

1.

Validity and reliability of Italian version of the non-communicating children's pain checklist. Revised version.

Murgia M, Izzo R, Bettinelli A, Di Maggio C, De Angelis M, Mangone M, Paoloni M, Bernetti A, Torquati A, Leuzzi V, Santilli V.

Eur J Phys Rehabil Med. 2018 Aug 29. doi: 10.23736/S1973-9087.18.05314-5. [Epub ahead of print]

PMID:
30160437
2.

Can untreated PKU patients escape from intellectual disability? A systematic review.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ.

Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Review.

3.

Living with phenylketonuria in adulthood: The PKU ATTITUDE study.

Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A.

Mol Genet Metab Rep. 2018 Jul 11;16:39-45. doi: 10.1016/j.ymgmr.2018.06.007. eCollection 2018 Sep.

4.

Newborn screening for homocystinurias: recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner C, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2018 Jun 15. doi: 10.1007/s10545-018-0213-0. [Epub ahead of print]

PMID:
29943221
5.

A new therapy prevents intellectual disability in mouse with phenylketonuria.

Pascucci T, Rossi L, Colamartino M, Gabucci C, Carducci C, Valzania A, Sasso V, Bigini N, Pierigè F, Viscomi MT, Ventura R, Cabib S, Magnani M, Puglisi-Allegra S, Leuzzi V.

Mol Genet Metab. 2018 May;124(1):39-49. doi: 10.1016/j.ymgme.2018.03.009. Epub 2018 Apr 7.

PMID:
29661557
6.

Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria.

Nardecchia F, Orlando R, Iacovelli L, Colamartino M, Fiori E, Leuzzi V, Piccinin S, Nistico R, Puglisi-Allegra S, Di Menna L, Battaglia G, Nicoletti F, Pascucci T.

Front Neurosci. 2018 Mar 16;12:154. doi: 10.3389/fnins.2018.00154. eCollection 2018.

7.

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

Leuzzi V, D'Agnano D, Menotta M, Caputi C, Chessa L, Magnani M.

Neurol Genet. 2018 Mar 27;4(2):e228. doi: 10.1212/NXG.0000000000000228. eCollection 2018 Apr.

8.

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

Kuseyri O, Weissbach A, Bruggemann N, Klein C, Giżewska M, Karall D, Scholl-Bürgi S, Romanowska H, Krzywińska-Zdeb E, Monavari AA, Knerr I, Yapıcı Z, Leuzzi V, Opladen T.

J Inherit Metab Dis. 2018 Sep;41(5):849-863. doi: 10.1007/s10545-018-0169-0. Epub 2018 Mar 28.

PMID:
29594647
9.

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Mol Genet Metab. 2018 Mar 14. pii: S1096-7192(18)30122-7. doi: 10.1016/j.ymgme.2018.02.017. [Epub ahead of print] No abstract available.

PMID:
29548777
10.

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Data Brief. 2017 Oct 28;15:868-875. doi: 10.1016/j.dib.2017.10.032. eCollection 2017 Dec.

11.

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica).

Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25.

PMID:
29178011
12.

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

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

13.

The complete European guidelines on phenylketonuria: diagnosis and treatment.

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.

Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Review.

14.

Issues with European guidelines for phenylketonuria - Authors' reply.

van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):683-684. doi: 10.1016/S2213-8587(17)30202-4. No abstract available.

PMID:
28842159
15.

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

Manti F, Nardecchia F, Paci S, Chiarotti F, Carducci C, Carducci C, Dalmazzone S, Cefalo G, Salvatici E, Banderali G, Leuzzi V.

J Inherit Metab Dis. 2017 Nov;40(6):793-799. doi: 10.1007/s10545-017-0082-y. Epub 2017 Aug 23.

PMID:
28836033
16.

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Mol Genet Metab. 2017 Sep;122(1-2):135-142. doi: 10.1016/j.ymgme.2017.08.003. Epub 2017 Aug 12. Erratum in: Mol Genet Metab. 2018 Mar 14;:.

PMID:
28818555
17.

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

Menotta M, Biagiotti S, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Plebani A, Soresina A, Magnani M.

Mol Cell Biochem. 2018 Jan;438(1-2):153-166. doi: 10.1007/s11010-017-3122-x. Epub 2017 Jul 25.

PMID:
28744812
18.

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

Menotta M, Biagiotti S, Spapperi C, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Soresina A, Micheli R, Magnani M.

Orphanet J Rare Dis. 2017 Jul 5;12(1):126. doi: 10.1186/s13023-017-0669-2.

19.

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.

Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V.

Eur J Pediatr. 2017 Jul;176(7):917-924. doi: 10.1007/s00431-017-2932-x. Epub 2017 May 24.

PMID:
28540433
20.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R.

Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.

21.

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.

Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D.

Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x.

22.

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

Santagata S, Di Carlo E, Carducci C, Leuzzi V, Angeloni A, Carducci C.

Clin Chim Acta. 2017 Mar;466:145-151. doi: 10.1016/j.cca.2017.01.019. Epub 2017 Jan 18.

PMID:
28109742
23.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.

Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Review.

24.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Review.

PMID:
28082082
25.

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

Leuzzi V, Mastrangelo M, Giannini MT, Carbonetti R, Hoffmann GF.

Neurology. 2017 Jan 31;88(5):501-502. doi: 10.1212/WNL.0000000000003539. Epub 2016 Dec 30. No abstract available.

PMID:
28039315
26.

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

Travaglini L, Aiello C, Alesi V, Loddo S, Novelli A, Tozzi G, Bertini E, Leuzzi V, Brancati F.

Brain Dev. 2017 Feb;39(2):182-183. doi: 10.1016/j.braindev.2016.08.010. Epub 2016 Sep 14. No abstract available.

PMID:
27639779
27.

Cognitive, adaptive, and behavioral features in Joubert syndrome.

Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D.

Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17.

PMID:
27530364
28.

A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.

Baroncelli L, Molinaro A, Cacciante F, Alessandrì MG, Napoli D, Putignano E, Tola J, Leuzzi V, Cioni G, Pizzorusso T.

Hum Mol Genet. 2016 Oct 1;25(19):4186-4200. doi: 10.1093/hmg/ddw252. Epub 2016 Jul 27.

PMID:
27466184
29.

Epilepsy in KCNH1-related syndromes.

Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V.

Epileptic Disord. 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830.

30.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D.

Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31.

31.

Erythrocyte-mediated delivery of recombinant enzymes.

Leuzzi V, Rossi L, Gabucci C, Nardecchia F, Magnani M.

J Inherit Metab Dis. 2016 Jul;39(4):519-30. doi: 10.1007/s10545-016-9926-0. Epub 2016 Mar 30. Review.

PMID:
27026098
32.

Psychiatric disorders in adolescent and young adult patients with phenylketonuria.

Manti F, Nardecchia F, Chiarotti F, Carducci C, Carducci C, Leuzzi V.

Mol Genet Metab. 2016 Jan;117(1):12-8. doi: 10.1016/j.ymgme.2015.11.006. Epub 2015 Nov 14.

PMID:
26655635
33.

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

Nissenkorn A, Borgohain R, Micheli R, Leuzzi V, Hegde AU, Mridula KR, Molinaro A, D'Agnano D, Yareeda S, Ben-Zeev B.

Eur J Paediatr Neurol. 2016 Jan;20(1):140-6. doi: 10.1016/j.ejpn.2015.09.002. Epub 2015 Sep 25.

PMID:
26493850
34.

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.

Mastrangelo M, Chiarotti F, Berillo L, Caputi C, Carducci C, Di Biasi C, Manti F, Nardecchia F, Leuzzi V.

Mol Genet Metab. 2015 Nov;116(3):171-7. doi: 10.1016/j.ymgme.2015.08.005. Epub 2015 Aug 10.

PMID:
26283467
35.

Severe early onset ethylmalonic encephalopathy with West syndrome.

Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P, Zeviani M, Leuzzi V, Spalice A.

Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21.

PMID:
26194623
36.

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.

Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G.

J Neurol Sci. 2015 Sep 15;356(1-2):65-71. doi: 10.1016/j.jns.2015.05.021. Epub 2015 May 29.

PMID:
26143525
37.

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

Carducci C, Santagata S, Friedman J, Pasquini E, Carducci C, Tolve M, Angeloni A, Leuzzi V.

Mol Genet Metab. 2015 Aug;115(4):157-60. doi: 10.1016/j.ymgme.2015.06.009. Epub 2015 Jun 25.

PMID:
26123188
38.

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.

Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK.

Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30.

PMID:
26010655
39.

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

Nardecchia F, Manti F, Chiarotti F, Carducci C, Carducci C, Leuzzi V.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):84-90. doi: 10.1016/j.ymgme.2015.04.003. Epub 2015 Apr 29.

PMID:
25952249
40.

Acute psychosis in an adolescent with undiagnosed homocystinuria.

Colafrancesco G, Di Marzio GM, Abbracciavento G, Stoppioni V, Leuzzi V, Ferrara M.

Eur J Pediatr. 2015 Sep;174(9):1263-6. doi: 10.1007/s00431-015-2552-2. Epub 2015 May 5.

PMID:
25939413
41.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K.

Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27.

PMID:
25915598
42.

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

Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M.

Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098. eCollection 2015 Jun.

43.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.

Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.

44.

A novel mouse model of creatine transporter deficiency.

Baroncelli L, Alessandrì MG, Tola J, Putignano E, Migliore M, Amendola E, Gross C, Leuzzi V, Cioni G, Pizzorusso T.

F1000Res. 2014 Sep 29;3:228. doi: 10.12688/f1000research.5369.1. eCollection 2014.

45.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A.

J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30.

PMID:
25355454
46.

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

De Rosa A, Carducci C, Carducci C, Peluso S, Lieto M, Mazzella A, Saccà F, Brescia Morra V, Pappatà S, Leuzzi V, De Michele G.

J Neurol. 2014 Nov;261(11):2204-8. doi: 10.1007/s00415-014-7477-6. Epub 2014 Sep 3.

PMID:
25182701
47.

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

Rossi L, Pierigè F, Carducci C, Gabucci C, Pascucci T, Canonico B, Bell SM, Fitzpatrick PA, Leuzzi V, Magnani M.

J Control Release. 2014 Nov 28;194:37-44. doi: 10.1016/j.jconrel.2014.08.012. Epub 2014 Aug 23.

48.

Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.

Leuzzi V, Mannarelli D, Manti F, Pauletti C, Locuratolo N, Carducci C, Carducci C, Vanacore N, Fattapposta F.

Front Pediatr. 2014 Jun 23;2:57. doi: 10.3389/fped.2014.00057. eCollection 2014.

49.

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?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C.

JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1.

50.

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.

Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.

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