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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
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: ruijter gjg. Clin Chem Lab Med. 2024 Mar 11. doi: 10.1515/cclm-2023-1291. Online ahead of print. Clin Chem Lab Med. 2024. PMID: 38456798
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: ruijter gjg. Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.
Catalano F, Vlaar EC, Katsavelis D, Dammou Z, Huizer TF, van den Bosch JC, Hoogeveen-Westerveld M, van den Hout HJMP, Oussoren E, Ruijter GJG, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP. Catalano F, et al. Among authors: ruijter gjg. Mol Ther Methods Clin Dev. 2023 Nov 2;31:101149. doi: 10.1016/j.omtm.2023.101149. eCollection 2023 Dec 14. Mol Ther Methods Clin Dev. 2023. PMID: 38033460 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.
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.
51 results