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

Year Number of Results
1962 1
1963 2
1966 1
1967 2
1968 3
1969 1
1972 1
1982 1
1983 1
1984 2
1986 1
1987 1
1989 4
1990 2
1991 3
1992 1
1993 3
1994 6
1995 6
1996 7
1997 5
1998 4
1999 5
2000 5
2001 2
2002 5
2003 4
2004 3
2005 2
2006 2
2007 3
2008 3
2009 2
2010 5
2011 4
2012 6
2013 3
2014 3
2015 8
2016 10
2017 6
2018 12
2019 10
2020 13
2021 13
2022 8
2023 9
2024 1

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187 results

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Page 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: fiumara a. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: fiumara a. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L, Bianchi P, Sturiale L, Garozzo D, Mangili G, Keldermans L, Rizzo R, Matthijs G, Fiumara A, Jaeken J, Barone R. Cirnigliaro L, et al. Among authors: fiumara a. Birth Defects Res. 2022 Mar;114(5-6):165-174. doi: 10.1002/bdr2.1981. Epub 2022 Jan 23. Birth Defects Res. 2022. PMID: 35068072 Free PMC article.
Mucopolysaccharidosis at play?
Fiumara A. Fiumara A. Eur J Hum Genet. 2018 Jan;26(1):34-35. doi: 10.1038/s41431-017-0036-8. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184168 Free PMC article. No abstract available.
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Among authors: fiumara a. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619
Hypoglossal nerve paralysis in a child after a dental procedure.
Marino SD, Schiavone L, La Mendola FMC, Timpanaro T, Cucuzza ME, Greco F, Smilari P, Fiumara A, Praticò AD. Marino SD, et al. Among authors: fiumara a. Neurol Neurochir Pol. 2018 May-Jun;52(3):406-409. doi: 10.1016/j.pjnns.2018.01.006. Epub 2018 Feb 6. Neurol Neurochir Pol. 2018. PMID: 29455904
187 results