Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 160

1.

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Porta F, Pagliardini V, Celestino I, Pavanello E, Pagliardini S, Guardamagna O, Ponzone A, Spada M.

Mol Genet Metab Rep. 2017 Sep 20;13:80-82. doi: 10.1016/j.ymgmr.2017.08.005. eCollection 2017 Dec.

2.

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.

Porta F, Spada M, Ponzone A.

Pediatrics. 2017 Aug;140(2). pii: e20161591. doi: 10.1542/peds.2016-1591. Epub 2017 Jul 5.

3.

Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.

Porta F, Ponzone A, Spada M.

Eur J Paediatr Neurol. 2016 Nov;20(6):839-842. doi: 10.1016/j.ejpn.2016.08.006. Epub 2016 Aug 15.

4.

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

Porta F, Ponzone A, Spada M.

J Pediatr. 2016 Jan;168:236-9.e1. doi: 10.1016/j.jpeds.2015.09.062. Epub 2015 Oct 27.

PMID:
26515614
5.

Genealogy of breastfeeding.

Porta F, Mussa A, Baldassarre G, Perduca V, Farina D, Spada M, Ponzone A.

Eur J Pediatr. 2016 Jan;175(1):105-12. doi: 10.1007/s00431-015-2605-6. Epub 2015 Aug 13.

PMID:
26264144
6.

Newborn screening for galactosemia: a 30-year single center experience.

Porta F, Pagliardini S, Pagliardini V, Ponzone A, Spada M.

World J Pediatr. 2015 May;11(2):160-4. doi: 10.1007/s12519-015-0017-3. Epub 2015 Mar 9.

PMID:
25754754
7.

Short prolactin profile for monitoring treatment in BH4 deficiency.

Porta F, Ponzone A, Spada M.

Eur J Paediatr Neurol. 2015 May;19(3):360-3. doi: 10.1016/j.ejpn.2015.01.010. Epub 2015 Feb 9.

PMID:
25707872
8.

Dopamine agonists in dihydropteridine reductase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A.

Mol Genet Metab. 2012 Apr;105(4):582-4. doi: 10.1016/j.ymgme.2012.01.013. Epub 2012 Jan 25.

PMID:
22325981
9.

Tetrahydrobiopterin and phenylketonuria.

Porta F, Spada M, Garelli D, Mussa A, Ponzone A.

J Pediatr. 2011 May;158(5):864; author reply 864-5. doi: 10.1016/j.jpeds.2010.12.002. Epub 2011 Feb 15. No abstract available.

PMID:
21324389
10.

Analgesic techniques in minor painful procedures in neonatal units: a survey in northern Italy.

Codipietro L, Bailo E, Nangeroni M, Ponzone A, Grazia G.

Pain Pract. 2011 Mar-Apr;11(2):154-9. doi: 10.1111/j.1533-2500.2010.00406.x.

PMID:
20704684
11.

Breastfeeding effects on newborn screening.

Porta F, Mussa A, Ponzone A.

J Pediatr. 2010 Jun;156(6):1033. doi: 10.1016/j.jpeds.2010.01.055. Epub 2010 Mar 24. No abstract available.

PMID:
20338576
12.

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

Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.

Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3.

PMID:
20059486
13.

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.

Metabolism. 2010 May;59(5):645-52. doi: 10.1016/j.metabol.2009.09.008. Epub 2009 Nov 14.

PMID:
19913839
14.

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A.

Neurology. 2009 Aug 25;73(8):633-7. doi: 10.1212/WNL.0b013e3181b38983.

PMID:
19704083
15.

In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).

Ponzone A, Mussa A, Porta F.

J Inherit Metab Dis. 2009 Aug;32(4):584; author reply 585-6. doi: 10.1007/s10545-009-9959-8. No abstract available.

PMID:
19609712
16.

HDR syndrome: a novel "de novo" mutation in GATA3 gene.

Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, Pappi P, Lala R, Ponzone A.

Am J Med Genet A. 2009 Feb 15;149A(4):770-5. doi: 10.1002/ajmg.a.32689.

PMID:
19248180
17.

Breastfeeding or oral sucrose solution in term neonates receiving heel lance: a randomized, controlled trial.

Codipietro L, Ceccarelli M, Ponzone A.

Pediatrics. 2008 Sep;122(3):e716-21. doi: 10.1542/peds.2008-0221.

PMID:
18762508
18.

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.

Ponzone A, Spada M, Roasio L, Porta F, Mussa A, Ferraris S.

J Pediatr Gastroenterol Nutr. 2008 May;46(5):561-9. doi: 10.1097/MPG.0b013e31815eead6.

PMID:
18493213
19.

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N.

Mol Genet Metab. 2008 Mar;93(3):295-305. Epub 2007 Dec 3.

PMID:
18060820
20.

High incidence of later-onset fabry disease revealed by newborn screening.

Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ.

Am J Hum Genet. 2006 Jul;79(1):31-40. Epub 2006 Apr 28.

21.

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

Peduto A, Spada M, Alluto A, La Dolcetta M, Ponzone A, Santer R.

J Inherit Metab Dis. 2004;27(2):279-80.

PMID:
15243984
22.

Dihydropteridine reductase deficiency in man: from biology to treatment.

Ponzone A, Spada M, Ferraris S, Dianzani I, de Sanctis L.

Med Res Rev. 2004 Mar;24(2):127-50. Review.

PMID:
14705166
23.

Tetrahydrobiopterin and mild phenylketonuria.

Ponzone A, Peduto A, Spada M.

N Engl J Med. 2003 Apr 24;348(17):1722-4; author reply 1722-4. No abstract available.

PMID:
12711753
24.

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E.

Neurology. 2003 Feb 25;60(4):674-82.

PMID:
12601111
25.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G.

J Am Soc Nephrol. 2002 Oct;13(10):2547-53.

26.

Cystinuria phenotyping by oral lysine and arginine loading.

de Sanctis L, Bonetti G, Bruno M, De Luca F, Bisceglia L, Palacin M, Dianzani I, Ponzone A.

Clin Nephrol. 2001 Dec;56(6):467-74.

PMID:
11770798
27.

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.

Giannattasio S, Dianzani I, Lattanzio P, Spada M, Romano V, Calì F, Andria G, Ponzone A, Marra E, Piazza A.

Hum Hered. 2001;52(3):154-9.

PMID:
11588399
28.

Genotype-phenotype correlation in dihydropteridine reductase deficiency.

de Sanctis L, Alliaudi C, Spada M, Farrugia R, Cerone R, Biasucci G, Meli C, Zammarchi E, Coskun T, Blau N, Ponzone A, Dianzani I.

J Inherit Metab Dis. 2000 Jun;23(4):333-7. No abstract available.

PMID:
10896287
29.

Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.

Dianzani I, Cotton RG, Camaschella C, Ponzone A, Piazza A, Landegren U.

Eur J Hum Genet. 1999 Dec;7(8):941-3. No abstract available.

30.

Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy.

Dianzani I, Landegren U, Camaschella C, Ponzone A, Piazza A, Cotton RG.

Hum Mutat. 1999;14(6):451-3.

PMID:
10571940
31.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium.

Nat Genet. 1999 Sep;23(1):52-7.

PMID:
10471498
32.

Goldenhar anomaly in one of triplets derived from in vitro fertilization.

Ferraris S, Silengo M, Ponzone A, Perugini L.

Am J Med Genet. 1999 May 21;84(2):167-8. No abstract available.

PMID:
10323743
33.

Newborn feeding and screening for phenylketonuria.

Ponzone A, Spada M, Ferrero GB, Ponzone R, Ferraris S.

Acta Paediatr. 1999 Mar;88(3):347-8. No abstract available.

PMID:
10229052
34.

Cardiac response to enzyme-replacement therapy in Gaucher's disease.

Spada M, Chiappa E, Ponzone A.

N Engl J Med. 1998 Oct 15;339(16):1165-6. No abstract available.

PMID:
9776652
35.

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG.

Hum Mutat. 1998;12(4):267-73.

PMID:
9744478
36.

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.

Spada M, Dianzani I, Bonetti G, Biondi A, Leone L, Giannattasio S, Ponzone A.

J Inherit Metab Dis. 1998 Jun;21(3):236-9. No abstract available.

PMID:
9686365
37.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F.

Am J Hum Genet. 1998 Jul;63(1):71-9. Erratum in: Am J Hum Genet 1998 Oct;63(4):1252-3.

38.

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Bisceglia L, Calonge MJ, Totaro A, Feliubadaló L, Melchionda S, García J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M.

Am J Hum Genet. 1997 Mar;60(3):611-6.

39.

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N.

Hum Mutat. 1997;10(1):25-35.

PMID:
9222757
40.

Phenotyping of phenylketonuric patients by oral phenylalanine loading.

Ponzone A, Spada M, de Sanctis L, Dianzani I.

Eur J Pediatr. 1996 Jun;155(6):523-5. No abstract available.

PMID:
8789776
41.

Derangement of pyruvate dehydrogenase activity in circulating lymphocytes of a newborn with fetal alcohol syndrome.

Ferraris S, Mostert M, Rabbone I, Cerutti F, Borgione S, Curto M, Mioletti S, Ponzone A, Silvestro L, Rinaudo MT.

Acta Paediatr. 1996 May;85(5):640. No abstract available.

PMID:
8827118
42.

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Blau N, Thony B, Spada M, Ponzone A.

Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. Review.

PMID:
8819618
43.

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.

de Sanctis L, Bruno M, Bonetti G, Cosseddu D, Bisceglia L, Ponzone A, Dianzani I.

J Inherit Metab Dis. 1996;19(2):243-5. No abstract available.

PMID:
8739976
44.

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin.

Spada M, Ferraris S, Ferrero GB, Sartore M, Lanza C, Perfetto F, de Sanctis L, Dompé C, Blau N, Ponzone A.

J Inherit Metab Dis. 1996;19(2):231-3. No abstract available.

PMID:
8739973
45.

Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency.

Schuler A, Blau N, Ponzone A.

Eur J Pediatr. 1995 Dec;154(12):997. No abstract available.

PMID:
8801112
46.

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al.

Am J Hum Genet. 1995 Oct;57(4):781-8.

47.

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.

Dianzani I, Knappskog PM, de Sanctis L, Giannattasio S, Riva E, Ponzone A, Apold J, Camaschella C.

Hum Mutat. 1995;6(3):247-9. No abstract available.

PMID:
8535444
48.

Genetic history of phenylketonuria mutations in Italy.

Dianzani I, Giannattasio S, de Sanctis L, Marra E, Ponzone A, Camaschella C, Piazza A.

Am J Hum Genet. 1994 Oct;55(4):851-3. No abstract available.

49.

Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.

Romano V, Dianzani I, Ponzone A, Zammarchi E, Eisensmith R, Ceratto N, Bosco P, Indelicato A.

Prenat Diagn. 1994 Oct;14(10):959-62.

PMID:
7899270
50.

Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

Spada M, Guardamagna O, Rabier D, van der Meer SB, Parvy P, Bardet J, Ponzone A, Saudubray JM.

J Pediatr. 1994 Aug;125(2):249-51.

PMID:
8040774

Supplemental Content

Loading ...
Support Center