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Results by year

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

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

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102 results

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Page 1
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. Weinreb NJ, et al. Among authors: ficicioglu c. Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9. Mol Genet Metab. 2022. PMID: 35367141 Free article. Review.
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR. Grünert SC, et al. Among authors: ficicioglu c. Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. Orphanet J Rare Dis. 2012. PMID: 22642865 Free PMC article.
Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C. Edmondson AC, et al. Among authors: ficicioglu c. JIMD Rep. 2017;33:109-110. doi: 10.1007/8904_2017_587. JIMD Rep. 2017. PMID: 28409479 Free PMC article. No abstract available.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
Adolescent presentations of inborn errors of metabolism.
Ahrens-Nicklas RC, Slap G, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: ficicioglu c. J Adolesc Health. 2015 May;56(5):477-82. doi: 10.1016/j.jadohealth.2015.01.008. J Adolesc Health. 2015. PMID: 25907648 Review.
Response to Neeleman et al.
Chinsky JM, Ficicioglu C, Ronald Scott C. Chinsky JM, et al. Among authors: ficicioglu c. Genet Med. 2020 Feb;22(2):439-440. doi: 10.1038/s41436-019-0659-y. Epub 2019 Oct 1. Genet Med. 2020. PMID: 31570801 Free article. No abstract available.
Early Indicators of Creatine Transporter Deficiency.
Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A. Miller JS, et al. Among authors: ficicioglu c. J Pediatr. 2019 Mar;206:283-285. doi: 10.1016/j.jpeds.2018.11.008. Epub 2018 Dec 20. J Pediatr. 2019. PMID: 30579583 Free PMC article.
102 results