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

Year Number of Results
2006 1
2007 2
2009 1
2010 1
2011 4
2012 2
2013 3
2014 3
2015 2
2016 2
2017 1
2018 1
2019 7
2020 5
2021 4
2022 0
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Search Results

31 results
Results by year
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Page 1
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
Ghosh A, Rust S, Langford-Smith K, Weisberg D, Canal M, Breen C, Hepburn M, Tylee K, Vaz FM, Vail A, Wijburg F, O'Leary C, Parker H, Wraith JE, Bigger BW, Jones SA. Ghosh A, et al. Among authors: tylee k. J Inherit Metab Dis. 2021 Sep;44(5):1248-1262. doi: 10.1002/jimd.12407. Epub 2021 Jun 13. J Inherit Metab Dis. 2021. PMID: 34047372 Clinical Trial.
Diagnosing mucopolysaccharidosis IVA.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: tylee k. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.
The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.
Broomfield A, Sims J, Mercer J, Hensman P, Ghosh A, Tylee K, Stepien KM, Oldham A, Prathivadi Bhayankaram N, Wynn R, Wright NB, Jones SA, Wilkinson S. Broomfield A, et al. Among authors: tylee k. Mol Genet Metab. 2021 Feb;132(2):94-99. doi: 10.1016/j.ymgme.2020.07.004. Epub 2020 Jul 21. Mol Genet Metab. 2021. PMID: 32713717
The lysosomal disease caused by mutant VPS33A.
Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. Pavlova EV, et al. Among authors: tylee kl. Hum Mol Genet. 2019 Aug 1;28(15):2514-2530. doi: 10.1093/hmg/ddz077. Hum Mol Genet. 2019. PMID: 31070736 Free PMC article.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: tylee k. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: tylee k. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
31 results