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Severe retinal degeneration in a patient with Canavan disease.
Benson MD, Plemel DJA, Freund PR, Lewis JR, Sass JO, Bähr L, Gemperle-Britschgi C, Ferreira P, MacDonald IM. Benson MD, et al. Among authors: ferreira p. Ophthalmic Genet. 2021 Feb;42(1):75-78. doi: 10.1080/13816810.2020.1827441. Epub 2020 Sep 25. Ophthalmic Genet. 2021. PMID: 32975148
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Dyment DA, et al. Among authors: ferreira p. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
ALG9-CDG: New clinical case and review of the literature.
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. Davis K, et al. Among authors: ferreira p. Mol Genet Metab Rep. 2017 Sep 6;13:55-63. doi: 10.1016/j.ymgmr.2017.08.004. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28932688 Free PMC article.
In memoriam Dr. Peter Bowen, 1932-1988.
Ferreira P. Ferreira P. Am J Med Genet. 1990 Jan;35(1):136-8. doi: 10.1002/ajmg.1320350126. Am J Med Genet. 1990. PMID: 2405666 No abstract available.
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A. Ferreira P, et al. Mol Genet Metab. 2017 Apr;120(4):317-324. doi: 10.1016/j.ymgme.2017.02.009. Epub 2017 Mar 1. Mol Genet Metab. 2017. PMID: 28285122 Free PMC article.
2,364 results