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

Year Number of Results
2002 1
2004 5
2005 6
2006 7
2007 3
2008 6
2009 4
2010 4
2011 5
2012 3
2013 8
2014 5
2015 3
2016 5
2017 4
2018 7
2019 7
2020 12
2021 10
2022 8
2023 6
2024 0

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102 results

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Page 1
Is it Fabry disease?
Schiffmann R, Fuller M, Clarke LA, Aerts JM. Schiffmann R, et al. Among authors: fuller m. Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19. Genet Med. 2016. PMID: 27195818 Free article. Review.
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS, Rybova J, Kleynerman A, Ahrenhoerster CJ, Saville JT, Xu T, Bachochin M, McKillop WM, Lawlor MW, Pshezhetsky AV, Isaeva O, Budde MD, Fuller M, Medin JA. Nagree MS, et al. Among authors: fuller m. Commun Biol. 2023 May 25;6(1):560. doi: 10.1038/s42003-023-04932-w. Commun Biol. 2023. PMID: 37231125 Free PMC article.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Ter Huurne M, Parker BL, Liu NQ, Qian EL, Vivien C, Karavendzas K, Mills RJ, Saville JT, Abu-Bonsrah D, Wise AF, Hudson JE, Talbot AS, Finn PF, Martini PGV, Fuller M, Ricardo SD, Watt KI, Nicholls KM, Porrello ER, Elliott DA. Ter Huurne M, et al. Among authors: fuller m. Am J Hum Genet. 2023 Sep 7;110(9):1600-1605. doi: 10.1016/j.ajhg.2023.07.013. Epub 2023 Aug 21. Am J Hum Genet. 2023. PMID: 37607539 Free PMC article.
Immunochemistry of lysosomal storage disorders.
Parkinson-Lawrence E, Fuller M, Hopwood JJ, Meikle PJ, Brooks DA. Parkinson-Lawrence E, et al. Among authors: fuller m. Clin Chem. 2006 Sep;52(9):1660-8. doi: 10.1373/clinchem.2005.064915. Epub 2006 Jul 13. Clin Chem. 2006. PMID: 16840586 Review.
Laronidase treatment of mucopolysaccharidosis I.
Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA. Wraith EJ, et al. Among authors: fuller m. BioDrugs. 2005;19(1):1-7. doi: 10.2165/00063030-200519010-00001. BioDrugs. 2005. PMID: 15691212 Review.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: fuller m. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323
Evaluation of biomarkers for Sanfilippo syndrome.
Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Saville JT, et al. Among authors: fuller m. Mol Genet Metab. 2019 Sep-Oct;128(1-2):68-74. doi: 10.1016/j.ymgme.2019.05.005. Epub 2019 May 9. Mol Genet Metab. 2019. PMID: 31104888
102 results