Patrick B Deegan

Author PubWeight™ 8.43‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology 2013 1.78
2 Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr 2015 0.92
3 Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol 2012 0.88
4 Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey. Mol Genet Metab 2011 0.88
5 Potential biomarkers of osteonecrosis in Gaucher disease. Blood Cells Mol Dis 2010 0.84
6 Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes. Haematologica 2012 0.83
7 Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. Mol Genet Metab 2012 0.83
8 Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease. J Med Genet 2012 0.77
9 Biomarkers for osteonecrosis in Gaucher disease. Expert Opin Med Diagn 2011 0.76