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

Year Number of Results
2009 1
2010 2
2011 1
2012 1
2013 2
2014 6
2015 5
2016 10
2017 7
2018 10
2019 7
2020 8
2021 8
2022 4
2023 7
2024 1

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69 results

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Page 1
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: diodato d. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Among authors: diodato d. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
Biomarkers for mitochondrial energy metabolism diseases.
Boenzi S, Diodato D. Boenzi S, et al. Among authors: diodato d. Essays Biochem. 2018 Jul 20;62(3):443-454. doi: 10.1042/EBC20170111. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 29980631 Review.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: diodato d. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
De Rose DU, Ronci S, Caoci S, Maddaloni C, Diodato D, Catteruccia M, Fattori F, Bosco L, Pro S, Savarese I, Bersani I, Randi F, Trozzi M, Meucci D, Calzolari F, Salvatori G, Solinas A, Dotta A, Campi F. De Rose DU, et al. Among authors: diodato d. J Pers Med. 2023 May 6;13(5):798. doi: 10.3390/jpm13050798. J Pers Med. 2023. PMID: 37240968 Free PMC article. Review.
69 results