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

Year Number of Results
2004 1
2008 2
2009 1
2010 1
2012 2
2013 2
2014 1
2015 3
2016 5
2017 5
2018 1
2020 7
2021 6
2022 5
2024 0

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35 results

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Page 1
Newborn with rhizomelia and difficulty breathing.
Maines E, Baggio L, Gugelmo G, Morandi G, Bordugo A. Maines E, et al. Among authors: bordugo a. Skeletal Radiol. 2017 Feb;46(2):231, 291-2. doi: 10.1007/s00256-016-2536-y. Skeletal Radiol. 2017. PMID: 27885381 No abstract available.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: bordugo a. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free article.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. Among authors: bordugo a. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
First paediatric COVID-19 associated death in Italy.
Mercolini F, Donà D, Girtler Y, Mussner KA, Biban P, Bordugo A, Molinaro G. Mercolini F, et al. Among authors: bordugo a. J Paediatr Child Health. 2021 May;57(5):736-737. doi: 10.1111/jpc.14994. Epub 2020 Jun 27. J Paediatr Child Health. 2021. PMID: 32592522 Free PMC article. No abstract available.
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: bordugo a. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
A neonate with abdominal distension and failure to thrive.
Tadiotto E, Maines E, Degani D, Banzato C, Balter R, Gugelmo G, Dardis A, Giordano G, Bordugo A. Tadiotto E, et al. Among authors: bordugo a. Arch Dis Child Educ Pract Ed. 2017 Jun;102(3):166. doi: 10.1136/archdischild-2015-310124. Epub 2016 Apr 26. Arch Dis Child Educ Pract Ed. 2017. PMID: 27117974 No abstract available.
A neonate with a 'milky' blood. What can it be?
Bordugo A, Carlin E, Demarini S, Faletra F, Colonna F. Bordugo A, et al. Arch Dis Child Fetal Neonatal Ed. 2014 Nov;99(6):F514. doi: 10.1136/archdischild-2014-305940. Epub 2014 Apr 19. Arch Dis Child Fetal Neonatal Ed. 2014. PMID: 24747307 No abstract available.
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A, Rodella G, Dianin A, Monge I, Messina M, Rigotti E, Pellegrini F, Molinaro G, Lupi F, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: bordugo a. Front Pediatr. 2021 May 31;9:661416. doi: 10.3389/fped.2021.661416. eCollection 2021. Front Pediatr. 2021. PMID: 34136440 Free PMC article.
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Cani I, Pondrelli F, Licchetta L, Minardi R, Giangregorio T, Mostacci B, Muccioli L, Di Vito L, Fetta A, Barba C, Castioni CA, Bordugo A, Tinuper P, Bisulli F. Cani I, et al. Among authors: bordugo a. Epilepsia Open. 2022 Dec;7(4):810-816. doi: 10.1002/epi4.12630. Epub 2022 Aug 17. Epilepsia Open. 2022. PMID: 35869793 Free PMC article.
35 results