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Page 1
Ophthalmological findings in Gaucher disease.
Eghbali A, Hassan S, Seehra G, FitzGibbon E, Sidransky E. Eghbali A, et al. Among authors: fitzgibbon e. Mol Genet Metab. 2019 May;127(1):23-27. doi: 10.1016/j.ymgme.2019.02.002. Epub 2019 Feb 15. Mol Genet Metab. 2019. PMID: 31047801 Review.
Randomized, controlled trial of miglustat in Gaucher's disease type 3.
Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko W, Timmons M, Ries M, Vellodi A. Schiffmann R, et al. Ann Neurol. 2008 Nov;64(5):514-22. doi: 10.1002/ana.21491. Ann Neurol. 2008. PMID: 19067373 Free PMC article. Clinical Trial.
A monozygotic twin pair with highly discordant Gaucher phenotypes.
Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE. Biegstraaten M, et al. Among authors: fitzgibbon e. Blood Cells Mol Dis. 2011 Jan 15;46(1):39-41. doi: 10.1016/j.bcmd.2010.10.007. Epub 2010 Nov 5. Blood Cells Mol Dis. 2011. PMID: 21056933 Free PMC article.
The saccadic and neurological deficits in type 3 Gaucher disease.
Benko W, Ries M, Wiggs EA, Brady RO, Schiffmann R, Fitzgibbon EJ. Benko W, et al. PLoS One. 2011;6(7):e22410. doi: 10.1371/journal.pone.0022410. Epub 2011 Jul 20. PLoS One. 2011. PMID: 21799847 Free PMC article. Clinical Trial.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC. Whitman MC, et al. Among authors: fitzgibbon ej. Hum Genet. 2021 Dec;140(12):1709-1731. doi: 10.1007/s00439-021-02379-9. Epub 2021 Oct 15. Hum Genet. 2021. PMID: 34652576 Free PMC article.
Torsional nystagmus during vertical pursuit.
FitzGibbon EJ, Calvert PC, Dieterich M, Brandt T, Zee DS. FitzGibbon EJ, et al. J Neuroophthalmol. 1996 Jun;16(2):79-90. J Neuroophthalmol. 1996. PMID: 8797162
103 results