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

Year Number of Results
2001 1
2005 4
2006 2
2007 1
2010 1
2011 5
2012 8
2013 2
2014 2
2015 2
2017 1
2019 1
2020 2
2021 2
2022 0
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29 results
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Page 1
Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A, Szpisjak L, Zádori D, Lénárt I, Maróti Z, Kalmár T, Brierley CMH, Deegan PB, Klivényi P. Salamon A, et al. Among authors: deegan pb. Ideggyogy Sz. 2021 Nov 30;74(11-12):425-429. doi: 10.18071/isz.74.0425. Ideggyogy Sz. 2021. PMID: 34856081 Free article. English.
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Colaco A, Kaya E, Adriaenssens E, Davis LC, Zampieri S, Fernández-Suárez ME, Tan CY, Deegan PB, Porter FD, Galione A, Bembi B, Dardis A, Platt FM. Colaco A, et al. Among authors: deegan pb. J Inherit Metab Dis. 2020 May;43(3):574-585. doi: 10.1002/jimd.12191. Epub 2019 Dec 5. J Inherit Metab Dis. 2020. PMID: 31707734 Free PMC article.
Clinical evaluation of biomarkers in Gaucher disease.
Deegan PB, Cox TM. Deegan PB, et al. Acta Paediatr Suppl. 2005 Mar;94(447):47-50; discussion 37-8. doi: 10.1111/j.1651-2227.2005.tb02111.x. Acta Paediatr Suppl. 2005. PMID: 15895712 Review.
Biomarkers for osteonecrosis in Gaucher disease.
Pavlova EV, Deegan PB, Cox TM. Pavlova EV, et al. Among authors: deegan pb. Expert Opin Med Diagn. 2012 Jan;6(1):1-13. doi: 10.1517/17530059.2012.626402. Epub 2011 Oct 13. Expert Opin Med Diagn. 2012. PMID: 23480616
Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy.
Deegan PB, Bähner F, Barba M, Hughes DA, Beck M. Deegan PB, et al. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 30. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 30. PMID: 21290688 Free Books & Documents. Review.
Clinical Features of Lysosomal Acid Lipase Deficiency.
Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, Lobritto SJ, Malinova V, McLin VA, Raiman J, Di Rocco M, Santra S, Sharma R, Sykut-Cegielska J, Whitley CB, Eckert S, Valayannopoulos V, Quinn AG. Burton BK, et al. Among authors: deegan pb. J Pediatr Gastroenterol Nutr. 2015 Dec;61(6):619-25. doi: 10.1097/MPG.0000000000000935. J Pediatr Gastroenterol Nutr. 2015. PMID: 26252914 Free PMC article.
Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.
Raskovalova T, Deegan PB, Mistry PK, Pavlova E, Yang R, Zimran A, Berger J, Bourgne C, Pereira B, Labarère J, Berger MG. Raskovalova T, et al. Among authors: deegan pb. Haematologica. 2021 Feb 1;106(2):437-445. doi: 10.3324/haematol.2019.236083. Haematologica. 2021. PMID: 32001533 Free PMC article.
Potential biomarkers of osteonecrosis in Gaucher disease.
Pavlova EV, Deegan PB, Tindall J, McFarlane I, Mehta A, Hughes D, Wraith JE, Cox TM. Pavlova EV, et al. Among authors: deegan pb. Blood Cells Mol Dis. 2011 Jan 15;46(1):27-33. doi: 10.1016/j.bcmd.2010.10.010. Epub 2010 Nov 13. Blood Cells Mol Dis. 2011. PMID: 21075651
29 results