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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 3
2004 1
2005 2
2007 4
2008 5
2009 7
2010 3
2011 2
2012 2
2013 7
2014 7
2015 6
2016 8
2017 5
2018 12
2019 13
2020 12
2021 22
2022 9
2023 12
2024 8

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129 results

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Page 1
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM, Dell'Anna S, Hakonen A, Wartiovaara-Kautto U, Kakko S, Rab MAE, van Oirschot B, Kraatari-Tiri M, van Wijk R, Rahikkala E. Ukonmaanaho EM, et al. Among authors: van wijk r. Br J Haematol. 2024 Feb 28. doi: 10.1111/bjh.19368. Online ahead of print. Br J Haematol. 2024. PMID: 38415930
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF. Al-Samkari H, et al. Among authors: van wijk r. Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5. Lancet Haematol. 2024. PMID: 38330977 Review.
Corrigendum to "Activation of pyruvate kinase as therapeutic option for rare hemolytic anemias: Shedding new light on an old enzyme" [Blood Rev. 2023 Sep:61:101103].
van Dijk MJ, de Wilde JRA, Bartels M, Kuo KHM, Glenthøj A, Rab MAE, van Beers EJ, van Wijk R. van Dijk MJ, et al. Among authors: van wijk r. Blood Rev. 2024 Mar;64:101160. doi: 10.1016/j.blre.2023.101160. Epub 2023 Dec 2. Blood Rev. 2024. PMID: 38044254 Free article. No abstract available.
Oxygen gradient ektacytometry-derived biomarkers are associated with acute complications in sickle cell disease.
Rab MAE, Kanne CK, Boisson C, Bos J, van Oirschot BA, Houwing ME, Renoux C, Bartels M, Rijneveld AW, Nur E, Cnossen MH, Joly P, Nader E, Fort R, Connes P, van Wijk R, Sheehan VA, van Beers EJ. Rab MAE, et al. Among authors: van wijk r. Blood Adv. 2024 Jan 23;8(2):276-286. doi: 10.1182/bloodadvances.2023011013. Blood Adv. 2024. PMID: 37976458 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: van wijk r. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ. van Dijk MJ, et al. Among authors: van wijk r. Blood Adv. 2023 Dec 26;7(24):7539-7550. doi: 10.1182/bloodadvances.2023011477. Blood Adv. 2023. PMID: 37934880 Free PMC article. Clinical Trial.
129 results