Patrick Deegan - Concepedia

Author

Patrick Deegan

Also Known As

Deegan, Patrick, Dominique Paul Germain, Francois G. Debray, Gerry Coghlan, Helen Firth, Joel Charrow, Natalie Dormand, Ozlem Goker-Alpan, P B Deegan, P Deegan

174

Publications

6.2K

Citations

H-Index

100

Concepts

All Affiliations

Addenbrooke's Hospital University College London University of Cambridge The Royal Free Hospital Shaare Zedek Medical Center

About

Patrick Deegan is an author at Addenbrooke's Hospital specializing in medicine, pathology, and substrate reduction therapy.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	30	2.2K
2	Public Health	4	4	390
3	Health Sciences	3	3	104
4	Engineering	1	1	32
5	Social Sciences	1	1	13

Patrick Deegan

Publications

4.8K

Citations

H-Index

Page 1

	Year	Citations
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Keren Carss, Gavin Arno, Marie Erwood, The American Journal of Human Genetics Whole-genome SequencingAllelic VariantGenetic DisorderMedicineGenetics	2016	463
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study Derralynn Hughes, Suma P. Shankar, Gere Sunder‐Plassmann, Journal of Medical Genetics	2016	370
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey, Orphanet Journal of Rare Diseases	2015	335
Natural history of Fabry disease in females in the Fabry Outcome Survey Patrick Deegan Journal of Medical Genetics	2005	294
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency Barbara K. Burton, Manisha Balwani, François Feillet, New England Journal of Medicine	2015	238
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf, The Lancet Neurology Late-onset Pompe DiseaseAutoimmune DiseaseClinical Infectious DiseaseMedicinePhase 3	2021	169
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease Raquel Durán, Niccolò E. Mencacci, Aikaterini V. Angeli, Movement Disorders	2012	145
Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy Patrick Deegan, Elena Pavlova, Jane Tindall, Medicine Bone DiseaseBone HealthFragility FractureOsteopathyEnzyme Replacement Therapy	2010	137
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease Patrick Deegan, Mary Teresa Moran, Ian G. McFarlane, Blood Cells Molecules and Diseases MedicineImmunologyGaucher DiseasePathology	2005	130
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial Benedikt Schoser, Mark Roberts, Barry J. Byrne, The Lancet Neurology Clinical TrialsCipaglucosidase AlfaPharmacotherapyMedicineLate-onset Pompe Disease	2021	124

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