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European Journal of Pediatrics|July 10, 2012
Revised recommendations for the management of Gaucher disease in childrenPaige Kaplan, Hagit Baris, Linda De Meirleir, et al.
The Journal of Experimental Medicine|February 10, 2016
Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosisAshish Misra, Abdul Q Sheikh, Abhishek Kumar, et al.
The American Journal of Medicine|July 23, 2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher RegistryNeal J Weinreb, Joel Charrow, Hans C Andersson, et al.
Archives of Neurology|November 14, 2007
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS GeneAn C M Jansen, Henian Cao, Paige Kaplan, et al.
Blood Cells, Molecules & Diseases|June 9, 2009
The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause)Ari Zimran, Elizabeth Morris, Eugen Mengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2005
Individualization of long-term enzyme replacement therapy for Gaucher diseaseHans C Andersson, Joel Charrow, Paige Kaplan, et al.
Molecular Genetics and Metabolism|March 6, 2007
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type IGregory M Pastores, Pamela Arn, Michael Beck, et al.
American Journal of Hematology|June 2, 2017
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher RegistryPramod K Mistry, Julie L Batista, Hans C Andersson, et al.
Orphanet Journal of Rare Diseases|April 2, 2022
Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS)Lina Titievsky, Tilman Schuster, Ronnie Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 28, 2019
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDKSolmi Cheon, Kiran Kaur, Nadine Nijem, et al.
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