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Molecular Genetics & Genomic Medicine|April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry studyDominique P Germain, Eva Brand, Alessandro Burlina, et al.
Ophthalmic Genetics|March 26, 2008
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathySuma P Shankar, John H Fingert, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases|April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trialRaphael Schiffmann, Daniel G Bichet, Ana Jovanovic, et al.
American Journal of Hematology|August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
American Journal of Hematology|June 23, 2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final resultsPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Plos One|May 9, 2015
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trialFrits A Wijburg, Bernard Bénichou, Daniel G Bichet, et al.
Investigative Ophthalmology & Visual Science|June 27, 2006
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori S Sullivan, Sara J Bowne, David G Birch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderSuma P Shankar, Kristin Grimsrud, Louise Lanoue, et al.
Molecular Genetics and Metabolism|April 17, 2019
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trialUma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.
American Journal of Medical Genetics. Part A|June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelinesKaren W Gripp, Lindsey A Morse, Marni Axelrad, et al.
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