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Page 1
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Among authors: felice a. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE. Farrugia R, et al. Among authors: felice ae. Mol Genet Metab. 2007 Mar;90(3):277-83. doi: 10.1016/j.ymgme.2006.10.013. Epub 2006 Dec 22. Mol Genet Metab. 2007. PMID: 17188538
Parascandalo, S. Attard Montalto, R. Farrugia, A.E. Felice, A congenital dopa responsive motor disorder: a Maltese variant due to sepiapterin reductase deficiency, Brain 128 (Pt10) (2005) 2291-2296.] has also been identified at high frequency (4.6%) in …
Parascandalo, S. Attard Montalto, R. Farrugia, A.E. Felice, A congenital dopa responsive motor disorder: a Malte …
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Borg J, et al. Among authors: felice ae. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. Nat Genet. 2010. PMID: 20676099 Free PMC article.
A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials.
Felice AE, Borg J, Pizzuto M, Cassar W, Galdies R, Wettinger SB, Pulis S, Hunter GJ, Caruana MR, Farrugia M, Scerri CA. Felice AE, et al. Hemoglobin. 2007;31(2):279-88. doi: 10.1080/03630260701297261. Hemoglobin. 2007. PMID: 17486512
Comparative in vivo expression of beta(+)-thalassemia alleles.
Marwan MM, Scerri CA, Zarroag SO, Cao A, Kyrri A, Kalogirou E, Kleanthous M, Ioannou P, Angastiniotis M, Felice AE. Marwan MM, et al. Among authors: felice ae. Hemoglobin. 1999 Aug;23(3):221-9. doi: 10.3109/03630269909005702. Hemoglobin. 1999. PMID: 10490134
305 results