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Page 1
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: ortolano r. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: ortolano r. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154
Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
Candela E, Zagariello M, Di Natale V, Ortolano R, Righetti F, Assirelli V, Biasucci G, Cassio A, Pession A, Baronio F. Candela E, et al. Among authors: ortolano r. Children (Basel). 2023 Feb 17;10(2):396. doi: 10.3390/children10020396. Children (Basel). 2023. PMID: 36832525 Free PMC article.
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G. Gialluisi A, et al. Among authors: ortolano r. Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17. Clin Genet. 2018. PMID: 28644547
Daptomycin for Children in Clinical Practice Experience.
Garazzino S, Castagnola E, Di Gangi M, Ortolano R, Krzysztofiak A, Nocerino A, Esposito S, D'Argenio P, Galli L, Losurdo G, Calitri C, Tovo PA; SITIP Daptomycin Study Group. Garazzino S, et al. Among authors: ortolano r. Pediatr Infect Dis J. 2016 Jun;35(6):639-41. doi: 10.1097/INF.0000000000001121. Pediatr Infect Dis J. 2016. PMID: 26910590
Letter to the Editors: Concerning "Divergent clinical outcomes of alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi M et al.
Ortolano R, Baronio F, Masetti R, Prete A, Cassio A, Pession A. Ortolano R, et al. Mol Genet Metab Rep. 2017 Mar 7;11:1. doi: 10.1016/j.ymgmr.2017.02.003. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28316933 Free PMC article. No abstract available.
40 results