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362 results

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Page 1
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: pasini a. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 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: pasini a. Front Pediatr. 2021 May 31;9:661416. doi: 10.3389/fped.2021.661416. eCollection 2021. Front Pediatr. 2021. PMID: 34136440 Free PMC article.
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
Maines E, Gugelmo G, Tadiotto E, Pietrobelli A, Campostrini N, Pasini A, Ion-Popa F, Vincenzi M, Teofoli F, Camilot M, Bordugo A. Maines E, et al. Among authors: pasini a. Public Health Nutr. 2017 Oct;20(15):2806-2809. doi: 10.1017/S1368980017001628. Epub 2017 Jul 24. Public Health Nutr. 2017. PMID: 28735580 Free PMC article.
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A, Rodella G, Dianin A, Nurti R, Monge I, Rigotti E, Cantalupo G, Salviati L, Tucci S, Pellegrini F, Molinaro G, Lupi F, Tonin P, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: pasini a. Mol Genet Metab Rep. 2020 Aug 5;24:100632. doi: 10.1016/j.ymgmr.2020.100632. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32793418 Free PMC article.
Alport syndrome: impact of digenic inheritance in patients management.
Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F. Fallerini C, et al. Among authors: pasini a. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054
Best practice guidelines for idiopathic nephrotic syndrome: recommendations versus reality.
Pasini A, Aceto G, Ammenti A, Ardissino G, Azzolina V, Bettinelli A, Cama E, Cantatore S, Crisafi A, Conti G, D'Agostino M, Dozza A, Edefonti A, Fede C, Groppali E, Gualeni C, Lavacchini A, Lepore M, Maringhini S, Mariotti P, Materassi M, Mencarelli F, Messina G, Negri A, Piepoli M, Ravaglia F, Simoni A, Spagnoletta L, Montini G; NefroKid Study Group. Pasini A, et al. Pediatr Nephrol. 2015 Jan;30(1):91-101. doi: 10.1007/s00467-014-2903-7. Epub 2014 Aug 17. Pediatr Nephrol. 2015. PMID: 25127916 Free PMC article. Clinical Trial.
Impact of COVID-19 Pandemic in Children with CKD or Immunosuppression.
Mastrangelo A, Morello W, Vidal E, Guzzo I, Annicchiarico Petruzzelli L, Benetti E, Materassi M, Giordano M, Pasini A, Corrado C, Puccio G, Chimenz R, Pecoraro C, Massella L, Peruzzi L, Montini G; COVID-19 Task Force of the Italian Society of Pediatric Nephrology; COVID-19 TASK FORCE of the Italian Society of Pediatric Nephrology. Mastrangelo A, et al. Among authors: pasini a. Clin J Am Soc Nephrol. 2021 Mar 8;16(3):449-451. doi: 10.2215/CJN.13120820. Epub 2020 Dec 14. Clin J Am Soc Nephrol. 2021. PMID: 33318026 Free PMC article. No abstract available.
Short-term effects of rituximab in children with steroid- and calcineurin-dependent nephrotic syndrome: a randomized controlled trial.
Ravani P, Magnasco A, Edefonti A, Murer L, Rossi R, Ghio L, Benetti E, Scozzola F, Pasini A, Dallera N, Sica F, Belingheri M, Scolari F, Ghiggeri GM. Ravani P, et al. Among authors: pasini a. Clin J Am Soc Nephrol. 2011 Jun;6(6):1308-15. doi: 10.2215/CJN.09421010. Epub 2011 May 12. Clin J Am Soc Nephrol. 2011. PMID: 21566104 Free PMC article. Clinical Trial.
362 results