Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2002 3
2003 3
2004 2
2005 2
2006 1
2007 2
2008 3
2009 1
2010 4
2011 2
2012 5
2013 2
2014 2
2015 6
2016 10
2017 4
2018 11
2019 9
2020 12
2021 13
2022 7
2023 8
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

100 results

Results by year

Filters applied: . Clear all
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
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.
Autism and phenylketonuria.
Baieli S, Pavone L, Meli C, Fiumara A, Coleman M. Baieli S, et al. Among authors: fiumara a. J Autism Dev Disord. 2003 Apr;33(2):201-4. doi: 10.1023/a:1022999712639. J Autism Dev Disord. 2003. PMID: 12757360
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.
Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance.
Giuffrida G, Markovic U, Condorelli A, Duminuco A, Calafiore V, Conticello C, Romano A, Grasso S, Riccobene C, Ragusa MTV, Esposito B, Nicolosi D, Calagna M, Nardo A, Consoli U, Uccello G, Di Giacomo V, Neri S, Cingari MR, Rodà F, Innao V, Fiumara A, Duro G, Zizzo C, Di Raimondo F. Giuffrida G, et al. Among authors: fiumara a. Eur J Haematol. 2023 Dec;111(6):922-929. doi: 10.1111/ejh.14105. Epub 2023 Sep 25. Eur J Haematol. 2023. PMID: 37747757
Epilepsy in patients with Angelman syndrome.
Fiumara A, Pittalà A, Cocuzza M, Sorge G. Fiumara A, et al. Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Ital J Pediatr. 2010. PMID: 20398390 Free PMC article. Review.
100 results