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Year | Number of Results |
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2021 | 2 |
2022 | 1 |
2023 | 4 |
2024 | 1 |
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Page 1
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Mol Genet Metab. 2021 Sep-Oct;134(1-2):96-116. doi: 10.1016/j.ymgme.2021.07.010. Epub 2021 Jul 26.
Mol Genet Metab. 2021.
PMID: 34340878
Free article.
Review.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV.
Frost FG, et al. Among authors: ferreira ea.
Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24.
Am J Hum Genet. 2023.
PMID: 36965478
Free PMC article.
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Treatment of ARS deficiencies with specific amino acids.
Kok G, Tseng L, Schene IF, Dijsselhof ME, Salomons G, Mendes MI, Smith DEC, Wiedemann A, Canton M, Feillet F, de Koning TJ, Boothe M, Dean J, Kassel R, Ferreira EA, van den Born M, Nieuwenhuis EES, Rehmann H, Terheggen-Lagro SWJ, van Karnebeek CDM, Fuchs SA.
Kok G, et al. Among authors: ferreira ea.
Genet Med. 2021 Nov;23(11):2202-2207. doi: 10.1038/s41436-021-01249-z. Epub 2021 Jun 30.
Genet Med. 2021.
PMID: 34194004
Free PMC article.
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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Ferreira EA, Buijs MJN, Wijngaard R, Daams JG, Datema MR, Engelen M, van Karnebeek CDM, Oud MM, Vaz FM, Wamelink MMC, van der Crabben SN, Langeveld M.
Ferreira EA, et al.
Front Neurol. 2023 Jul 25;14:1206106. doi: 10.3389/fneur.2023.1206106. eCollection 2023.
Front Neurol. 2023.
PMID: 37560457
Free PMC article.
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Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH.
Bergen AA, et al.
EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14.
EMBO Mol Med. 2024.
PMID: 38177529
Free PMC article.
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM.
Ferreira EA, et al.
Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9.
Genet Med. 2023.
PMID: 36350326
Free article.
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