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Page 1
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Bonafede L, Ficicioglu CH, Serrano L, Han G, Morgan JI, Mills MD, Forbes BJ, Davidson SL, Binenbaum G, Kaplan PB, Nichols CW, Verloo P, Leroy BP, Maguire AM, Aleman TS. Bonafede L, et al. Among authors: verloo p. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7875-87. doi: 10.1167/iovs.15-17857. Invest Ophthalmol Vis Sci. 2015. PMID: 26658511 Free PMC article.
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Among authors: verloo p. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. Schwahn BC, et al. Among authors: verloo p. JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154053 Free PMC article.
Abdominal pain and vomiting as first sign of mitochondrial disease.
Van Biervliet S, Verloo P, Vande Veldel S, Van Winckel M, Smet J, Seneca S, De Meirleir L, Van Coster R. Van Biervliet S, et al. Among authors: verloo p. Acta Gastroenterol Belg. 2009 Jul-Sep;72(3):365-8. Acta Gastroenterol Belg. 2009. PMID: 19902874
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA. Schuermans N, et al. Among authors: verloo p. Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y. Orphanet J Rare Dis. 2022. PMID: 35606766 Free PMC article.
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A, Seneca S, Stouffs K, Lissens W, Jansen A, Laeremans H, Verloo P, Schoonjans AS, Meuwissen M, Barca D, Martens G, De Meirleir L. Gheldof A, et al. Among authors: verloo p. Mol Genet Genomic Med. 2019 Feb;7(2):e00527. doi: 10.1002/mgg3.527. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548430 Free PMC article.
30 results