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Results: 1 to 20 of 67

1.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C.

J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6.

PMID:
24599607
2.

Overlapping and distinct roles of Aspergillus fumigatus UDP-glucose 4-epimerases in galactose metabolism and the synthesis of galactose-containing cell wall polysaccharides.

Lee MJ, Gravelat FN, Cerone RP, Baptista SD, Campoli PV, Choe SI, Kravtsov I, Vinogradov E, Creuzenet C, Liu H, Berghuis AM, Latgé JP, Filler SG, Fontaine T, Sheppard DC.

J Biol Chem. 2014 Jan 17;289(3):1243-56. doi: 10.1074/jbc.M113.522516. Epub 2013 Nov 20.

3.

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.

Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N.

Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20.

4.

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

Cerone R, Andria G, Giovannini M, Leuzzi V, Riva E, Burlina A.

Adv Ther. 2013 Mar;30(3):212-28. doi: 10.1007/s12325-013-0011-x. Epub 2013 Feb 20. Review.

PMID:
23436109
5.

The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

Cassio A, Corbetta C, Antonozzi I, Calaciura F, Caruso U, Cesaretti G, Gastaldi R, Medda E, Mosca F, Pasquini E, Salerno MC, Stoppioni V, Tonacchera M, Weber G, Olivieri A; Italian Society for Pediatric Endocrinology and Diabetology; Italian Society for the Study of Metabolic Diseases and Neonatal Screening; Italian National Institute of Health; Italian National Coordinating Group for Congenital Hypothyroidism; Italian Thyroid Association; Italian Society of Pediatrics; Italian Society of Neonatology; Italian Society of Endocrinology; Associazione Medici Endocrinologi.

J Endocrinol Invest. 2013 Mar;36(3):195-203. doi: 10.3275/8849. Epub 2013 Feb 12. Review.

PMID:
23404215
6.

Common criteria among States for storage and use of dried blood spot specimens after newborn screening.

Petrini C, Olivieri A, Corbetta C, Cerone R, D'Agnolo G, Bompiani A.

Ann Ist Super Sanita. 2012;48(2):119-21. doi: DOI: 10.4415/ANN_12_02_03.

7.

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A.

Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20.

PMID:
22658692
8.

Storage and use of residual newborn screening dot blood samples in Italy.

Petrini C, Olivieri A, Corbetta C, Cerone R, D'Agnolo G, Bompiani A.

Ital J Pediatr. 2011 May 21;37:25. doi: 10.1186/1824-7288-37-25. No abstract available.

9.

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R.

Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa.

PMID:
20531206
10.

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
11.

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers.

Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13.

PMID:
19800826
12.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C.

Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27.

PMID:
18164228
13.

[Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience].

Cerone R, Cassanello M, Caruso U, Schiaffino MC, Lorini R.

Minerva Pediatr. 2007 Oct;59(5):488-9. Italian. No abstract available.

PMID:
17947884
14.

Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis.

Verrina E, Caruso U, Calevo MG, Emma F, Sorino P, De Palo T, Lavoratti G, Turrini Dertenois L, Cassanello M, Cerone R, Perfumo F; Italian Registry of Pediatric Chronic Dialysis.

Pediatr Nephrol. 2007 May;22(5):727-33. Epub 2007 Feb 3.

PMID:
17277954
15.

Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus.

Signorello MG, Viviani GL, Armani U, Cerone R, Minniti G, Piana A, Leoncini G.

Thromb Res. 2007;120(4):607-13. Epub 2006 Dec 26.

PMID:
17188741
16.

Metabolic and genetic risk factors for migraine in children.

Bottini F, Celle ME, Calevo MG, Amato S, Minniti G, Montaldi L, Di Pasquale D, Cerone R, Veneselli E, Molinari AC.

Cephalalgia. 2006 Jun;26(6):731-7.

PMID:
16686913
17.

von Willebrand factor multimer composition is modified following oral methionine load in women with thrombosis, but not in healthy women.

Perutelli P, Amato S, Minniti G, Bottini F, Calevo MG, Cerone R, Molinari AC.

Blood Coagul Fibrinolysis. 2005 Jun;16(4):267-73.

PMID:
15870546
18.

Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.

Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Carnevale F, Cerone R.

J Inherit Metab Dis. 2004;27(1):101-2.

PMID:
15065571
19.

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.

Cerone R, Schiaffino MC, Fantasia AR, Perfumo M, Birk Moller L, Blau N.

Mol Genet Metab. 2004 Feb;81(2):137-9.

PMID:
14741196
20.

Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.

Pisciotta L, Cantafora A, Piana A, Masturzo P, Cerone R, Minniti G, Bellocchio A, Reggiani E, Armani U, Bertolini S.

Nutr Metab Cardiovasc Dis. 2003 Aug;13(4):202-10.

PMID:
14650352
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