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

Year Number of Results
1997 2
1999 1
2002 2
2003 4
2004 4
2005 2
2006 1
2007 1
2010 2
2011 1
2012 1
2013 2
2015 2
2016 1
2017 1
2018 3
2019 2
2020 3
2021 5
2022 5
2023 7
2024 2

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51 results

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Page 1
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: ruijter gjg. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood.
de Bruyn DP, Bongaerts M, Bonte R, Vaarwater J, Meester-Smoor MA, Verdijk RM, Paridaens D, Naus NC, de Klein A, Ruijter GJG, Kiliç E, Brosens E; Rotterdam Ocular Melanoma Study Group (ROMS). de Bruyn DP, et al. Among authors: ruijter gjg. Int J Mol Sci. 2023 Mar 7;24(6):5077. doi: 10.3390/ijms24065077. Int J Mol Sci. 2023. PMID: 36982149 Free PMC article.
Gastrointestinal Biomarkers and Their Association with Feeding in the First Five Days of Pediatric Critical Illness.
Veldscholte K, Hulst JM, Eveleens RD, de Jonge RCJ, de Koning BAE, van den Berg SAA, van der Wal R, Ruijter GJG, Rizopoulos D, Vanhorebeek I, Gunst J, Casaer M, Van den Berghe G, Joosten KFM, Verbruggen SCAT. Veldscholte K, et al. Among authors: ruijter gjg. J Pediatr Gastroenterol Nutr. 2023 Dec 1;77(6):811-818. doi: 10.1097/MPG.0000000000003950. Epub 2023 Sep 20. J Pediatr Gastroenterol Nutr. 2023. PMID: 37728917 Free PMC article. Clinical Trial.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: ruijter gjg. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
Maternal Body Mass Index, Early-Pregnancy Metabolite Profile, and Birthweight.
Wahab RJ, Jaddoe VWV, Voerman E, Ruijter GJG, Felix JF, Marchioro L, Uhl O, Shokry E, Koletzko B, Gaillard R. Wahab RJ, et al. Among authors: ruijter gjg. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e315-e327. doi: 10.1210/clinem/dgab596. J Clin Endocrinol Metab. 2022. PMID: 34390344 Free PMC article.
Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method.
Paredes-Fuentes AJ, Oliva C, Montero R, Alcaide P, Ruijter GJG, García-Villoria J, Ruiz-Sala P, Artuch R. Paredes-Fuentes AJ, et al. Among authors: ruijter gjg. Antioxidants (Basel). 2022 Mar 10;11(3):528. doi: 10.3390/antiox11030528. Antioxidants (Basel). 2022. PMID: 35326178 Free PMC article.
Mucolipidosis type III, a series of adult patients.
Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: ruijter gjg. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.
51 results