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

Year Number of Results
1973 1
1975 1
1976 1
1981 2
1983 1
1984 1
1986 1
1988 1
1990 1
1994 4
1995 3
1996 2
1998 5
1999 4
2000 3
2001 1
2002 6
2003 4
2004 2
2005 7
2006 9
2007 6
2008 9
2009 13
2010 13
2011 12
2012 9
2013 11
2014 10
2015 19
2016 14
2017 7
2018 11
2019 18
2020 20
2021 20
2022 10
2024 0

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PubMed (Bookshelf cited) for id: 344422

235 results

Results by year

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Page 1
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. Marelli C, et al. J Inherit Metab Dis. 2022 Sep;45(5):937-951. doi: 10.1002/jimd.12525. Epub 2022 Jun 23. J Inherit Metab Dis. 2022. PMID: 35618652 Free PMC article.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC. Pangilinan F, et al. Am J Med Genet A. 2022 Apr;188(4):1124-1141. doi: 10.1002/ajmg.a.62627. Epub 2022 Feb 2. Am J Med Genet A. 2022. PMID: 35107211 Free PMC article.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D. Sumathipala D, et al. Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034. Brain. 2022. PMID: 35104841 Free PMC article.
Altered immune response in organic acidemia.
Altun I, Kiykim A, Zubarioglu T, Burtecene N, Hopurcuoglu D, Topcu B, Cansever MS, Kiykim E, Cokugras HC, Aktuglu Zeybek AC. Altun I, et al. Pediatr Int. 2022 Jan;64(1):e15082. doi: 10.1111/ped.15082. Pediatr Int. 2022. PMID: 34861062
235 results