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Items: 1 to 50 of 167

1.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Carecchio M, Invernizzi F, Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N.

Mov Disord. 2019 Jun 19. doi: 10.1002/mds.27771. [Epub ahead of print]

PMID:
31216378
2.

Clinical characterization of tremor in patients with phenylketonuria.

Nardecchia F, Manti F, De Leo S, Carducci C, Leuzzi V.

Mol Genet Metab. 2019 Jun 3. pii: S1096-7192(19)30214-8. doi: 10.1016/j.ymgme.2019.05.017. [Epub ahead of print]

PMID:
31208951
3.

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Tolve M, Artiola C, Pasquali A, Giovanniello T, D'Amici S, Angeloni A, Pizzuti A, Carducci C, Leuzzi V, Carducci C.

Methods Protoc. 2018 Aug 16;1(3). pii: E30. doi: 10.3390/mps1030030.

4.

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

Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C.

Mol Genet Metab. 2019 Jun;127(2):132-137. doi: 10.1016/j.ymgme.2019.05.004. Epub 2019 May 10.

PMID:
31104889
5.

PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.

Caputi C, Tolve M, Galosi S, Inghilleri M, Carducci C, Angeloni A, Leuzzi V.

Parkinsonism Relat Disord. 2019 Apr 1. pii: S1353-8020(19)30105-1. doi: 10.1016/j.parkreldis.2019.03.012. [Epub ahead of print]

PMID:
30956058
6.

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

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.

Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Review.

PMID:
30952622
7.

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

Mastrangelo M, Manti F, Patanè L, Ferrari S, Carducci C, Carducci C, Mangili G, Leuzzi V.

Mov Disord Clin Pract. 2018 May 12;5(4):446-447. doi: 10.1002/mdc3.12622. eCollection 2018 Jul-Aug. No abstract available.

8.

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 CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034.

PMID:
30740731
9.

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.

Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V.

Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16. Review.

PMID:
30642806
10.

A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study.

Molinaro A, Alessandrì MG, Putignano E, Leuzzi V, Cioni G, Baroncelli L, Pizzorusso T.

Sci Rep. 2019 Jan 11;9(1):62. doi: 10.1038/s41598-018-37303-1.

11.

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.

Nasca A, Nardecchia F, Commone A, Semeraro M, Legati A, Garavaglia B, Ghezzi D, Leuzzi V.

Front Genet. 2018 Dec 7;9:625. doi: 10.3389/fgene.2018.00625. eCollection 2018.

12.

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

Mastrangelo M, Sartori S, Simonati A, Brinciotti M, Moro F, Nosadini M, Pezzini F, Doccini S, Santorelli FM, Leuzzi V.

Eur J Med Genet. 2018 Nov 27. pii: S1769-7212(18)30404-X. doi: 10.1016/j.ejmg.2018.11.025. [Epub ahead of print]

PMID:
30500434
13.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F.

Nephrol Dial Transplant. 2018 Nov 6. doi: 10.1093/ndt/gfy333. [Epub ahead of print]

PMID:
30403813
14.

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

Cappuccio G, Torella A, Mastrangelo M, Carducci C, Nigro V; TUDP, Brunetti-Pierri N, Leuzzi V.

Acta Paediatr. 2019 Mar;108(3):564-565. doi: 10.1111/apa.14633. Epub 2018 Nov 27. No abstract available.

PMID:
30383884
15.

PRICKLE1-related early onset epileptic encephalopathy.

Mastrangelo M, Tolve M, Martinelli M, Di Noia SP, Parrini E, Leuzzi V.

Am J Med Genet A. 2018 Dec;176(12):2841-2845. doi: 10.1002/ajmg.a.40625. Epub 2018 Oct 22.

PMID:
30345727
16.

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

Manti F, Nardecchia F, Barresi S, Venditti M, Pizzi S, Hamdan FF, Blau N, Burlina A, Tartaglia M, Leuzzi V.

Parkinsonism Relat Disord. 2019 Apr;61:207-210. doi: 10.1016/j.parkreldis.2018.10.012. Epub 2018 Oct 11.

PMID:
30337205
17.

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. 2019 Feb;55(1):89-94. doi: 10.23736/S1973-9087.18.05314-5. Epub 2018 Aug 29.

18.

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.

19.

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.

20.

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
21.

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.

22.

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.

23.

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
24.

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 Dec;125(4):359. doi: 10.1016/j.ymgme.2018.02.017. Epub 2018 Mar 14. No abstract available.

PMID:
29548777
25.

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.

26.

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
27.

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.

28.

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.

29.

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
30.

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
31.

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
32.

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
33.

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.

34.

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

Vita MG, Bove F, Mariotti P, Riccioni ME, Leuzzi V, Bentivoglio AR.

Mov Disord Clin Pract. 2017 Jun 29;4(5):791-792. doi: 10.1002/mdc3.12509. eCollection 2017 Sep-Oct. No abstract available.

35.

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
36.

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.

37.

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.

38.

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
39.

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.

40.

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
41.

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
42.

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
43.

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
44.

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
45.

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.

46.

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.

47.

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
48.

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
49.

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
50.

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

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