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European Journal of Internal Medicine|June 15, 2016
Unique medical issues in adult patients with mucopolysaccharidosesJohn Mitchell, Kenneth I Berger, Andrea Borgo, et al.
American Journal of Medical Genetics. Part A|June 13, 2015
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot studyBarbara K Burton, Kenneth I Berger, Gregory D Lewis, et al.
The Journal of Pediatrics|May 6, 2004
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)James E Wraith, Lorne A Clarke, Michael Beck, et al.
Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.
Plos One|May 2, 2015
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body diseaseLorraine N Clark, Robin Chan, Rong Cheng, et al.
American Journal of Hematology|January 23, 2013
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imigluceraseAri Zimran, Gregory M Pastores, Anna Tylki-Szymanska, et al.
Molecular Genetics and Metabolism|November 27, 2007
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox, João Paulo Oliveira, Robert J Hopkin, et al.
Orphanet Journal of Rare Diseases|April 25, 2012
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedureMinke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, et al.
Seminars in Hematology|October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb, Mario C Aggio, Hans C Andersson, et al.
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