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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 2
2008 2
2011 4
2012 4
2013 1
2014 1
2015 1
2016 1
2017 1
2018 1
2019 2
2020 1
2022 3
2023 1
2024 0

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23 results

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Page 1
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
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. Keller R, et al. Among authors: cassanello m. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: cassanello m. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Adenosine Blood Level: A Biomarker of White Matter Damage in Very Low Birth Weight Infants.
Colella M, Panfoli I, Doglio M, Cassanello M, Bruschi M, Angelis LC, Candiano G, Parodi A, Malova M, Petretto A, Morana G, Tortora D, Severino M, Maghnie M, Buonocore G, Rossi A, Baud O, Ramenghi LA. Colella M, et al. Among authors: cassanello m. Curr Pediatr Rev. 2022;18(2):153-163. doi: 10.2174/1573396318666220127155943. Curr Pediatr Rev. 2022. PMID: 35086453
Glucokinase mutations in pediatric patients with impaired fasting glucose.
Aloi C, Salina A, Minuto N, Tallone R, Lugani F, Mascagni A, Mazza O, Cassanello M, Maghnie M, d'Annunzio G. Aloi C, et al. Among authors: cassanello m. Acta Diabetol. 2017 Oct;54(10):913-923. doi: 10.1007/s00592-017-1021-y. Epub 2017 Jul 19. Acta Diabetol. 2017. PMID: 28726111
Why do premature newborn infants display elevated blood adenosine levels?
Panfoli I, Cassanello M, Bruschettini M, Colella M, Cerone R, Ravera S, Calzia D, Candiano G, Ramenghi L. Panfoli I, et al. Among authors: cassanello m. Med Hypotheses. 2016 May;90:53-6. doi: 10.1016/j.mehy.2016.03.007. Epub 2016 Mar 12. Med Hypotheses. 2016. PMID: 27063086
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Carrozzo R, et al. Among authors: cassanello m. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298. Am J Med Genet A. 2008. PMID: 18536048
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, R… See abstract for full author list ➔ Marquardt G, et al. Among authors: cassanello m. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M. Santarelli F, et al. Among authors: cassanello m. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. Ital J Pediatr. 2013. PMID: 23705938 Free PMC article.
23 results