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About
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