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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 4
2021 3
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37 results

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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: deegan pb. J Med Genet. 2024 May 21;61(6):520-530. doi: 10.1136/jmg-2023-109445. J Med Genet. 2024. PMID: 37940383 Free PMC article. Clinical Trial.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A, Zaher A, Sensinger C, Gaemers SJM, Modur V, Thurberg BL, Sharma J, Najafian B, Mauer M, DasMahapatra P, Wilcox WR, Germain DP. Deegan PB, et al. Mol Genet Metab. 2023 Feb;138(2):106963. doi: 10.1016/j.ymgme.2022.11.002. Epub 2022 Nov 9. Mol Genet Metab. 2023. PMID: 36481125 Free PMC article. Clinical Trial.
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.
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.
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.
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
37 results