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

Year Number of Results
1992 2
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1996 1
2004 1
2005 1
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2009 1
2010 1
2012 3
2013 2
2014 1
2015 2
2016 6
2017 6
2018 1
2020 8
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50 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.
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.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: bordugo a. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 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.
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.
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.
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
Burlina A, Bettocchi I, Biasucci G, Bordugo A, Gasperini S, La Spina L, Maines E, Meli C, Menni F, Paci S, Procopio E, Rossi A, Rubert L, Spada M, Tubili F, Tummolo A. Burlina A, et al. Among authors: bordugo a. Eur Rev Med Pharmacol Sci. 2022 Jul;26(14):5136-5143. doi: 10.26355/eurrev_202207_29302. Eur Rev Med Pharmacol Sci. 2022. PMID: 35916811 Free article.
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