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Items: 1 to 50 of 177

1.

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male.

Pollini L, Tolve M, Nardecchia F, Galosi S, Carducci C, di Carlo E, Carducci C, Leuzzi V.

Mol Genet Metab Rep. 2020 Jan 7;22:100560. doi: 10.1016/j.ymgmr.2019.100560. eCollection 2020 Mar.

PMID:
32099815
2.

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

Galosi S, Nardecchia F, Leuzzi V.

Mov Disord Clin Pract. 2020 Feb 4;7(2):154-166. doi: 10.1002/mdc3.12897. eCollection 2020 Feb. Review.

PMID:
32071932
3.

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Pollini L, Galosi S, Nardecchia F, Musacchia F, Castello R, Nigro V, Leuzzi V.

Mov Disord Clin Pract. 2019 Nov 21;7(1):118-119. doi: 10.1002/mdc3.12865. eCollection 2020 Jan. No abstract available.

PMID:
31970230
4.

The expanding spectrum of movement disorders in genetic epilepsies.

Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA.

Dev Med Child Neurol. 2020 Feb;62(2):178-191. doi: 10.1111/dmcn.14407. Epub 2019 Nov 29. Review.

PMID:
31784983
5.

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

Romani C, Manti F, Nardecchia F, Valentini F, Fallarino N, Carducci C, De Leo S, MacDonald A, Palermo L, Leuzzi V.

Orphanet J Rare Dis. 2019 Nov 28;14(1):273. doi: 10.1186/s13023-019-1225-z.

6.

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Casas K, Didycz B, Djordjevic M, Hertecant JL, Leuzzi V, Mathisen P, Nardecchia F, Powell KK, Rutsch F, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ.

Nutrients. 2019 Oct 25;11(11). pii: E2572. doi: 10.3390/nu11112572.

7.

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

Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J.

Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Review.

PMID:
31621627
8.

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

Mastrangelo M, Mei D, Cesario S, Fioriello F, Bernardini L, Brinciotti M, Guerrini R, Leuzzi V.

Parkinsonism Relat Disord. 2019 Nov;68:1-3. doi: 10.1016/j.parkreldis.2019.09.016. Epub 2019 Sep 18. No abstract available.

PMID:
31621611
9.

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

Leuzzi V, Chiarotti F, Nardecchia F, van Vliet D, van Spronsen FJ.

J Med Genet. 2020 Mar;57(3):145-150. doi: 10.1136/jmedgenet-2019-106278. Epub 2019 Sep 4. Review.

PMID:
31484718
10.

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

Mastrangelo M, Alfonsi C, Screpanti I, Masuelli L, Tavazzi B, Mei D, Giannotti F, Guerrini R, Leuzzi V.

Mol Genet Metab Rep. 2019 Aug 21;21:100502. doi: 10.1016/j.ymgmr.2019.100502. eCollection 2019 Dec.

11.

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 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19.

PMID:
31216378
12.

Clinical characterization of tremor in patients with phenylketonuria.

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

Mol Genet Metab. 2019 Sep - Oct;128(1-2):53-56. doi: 10.1016/j.ymgme.2019.05.017. Epub 2019 Jun 3.

PMID:
31208951
13.

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.

14.

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
15.

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 Jul;64:342-345. doi: 10.1016/j.parkreldis.2019.03.012. Epub 2019 Apr 1.

PMID:
30956058
16.

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
17.

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.

18.

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; 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
19.

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
20.

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.

21.

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.

22.

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. 2019 Dec;62(12):103591. doi: 10.1016/j.ejmg.2018.11.025. Epub 2018 Nov 27.

PMID:
30500434
23.

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
24.

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
25.

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
26.

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
27.

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.

28.

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.

29.

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.

30.

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
31.

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.

32.

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.

33.

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
34.

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
35.

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.

36.

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
37.

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.

38.

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.

39.

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
40.

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
41.

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
42.

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
43.

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.

44.

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.

45.

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
46.

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.

47.

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.

48.

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
49.

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.

50.

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

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