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Orphanet Journal of Rare Diseases
|
April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael 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 trial
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Neurobiology of Aging
|
January 21, 2026
Concurrent associations between visit-to-visit changes in actigraphy-based physical activity and cognitive aging in older adults
Ranjani P Shankar, Rowan Saloner, Coty Chen, 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 results
Pramod 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 trial
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, 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 disorder
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, 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 families
Lori S Sullivan, Sara J Bowne, David G Birch, et al.
Virusdisease
|
February 13, 2015
Epidemiology of foot and mouth disease in Karnataka state, India: a retrospective study
Raveendra Hegde, Amitha R Gomes, P Giridhar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 7, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Suma 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 trial
Uma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 144) with videos related to
Sort By:
Page
of 15
Orphanet Journal of Rare Diseases
|
April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael 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 trial
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Neurobiology of Aging
|
January 21, 2026
Concurrent associations between visit-to-visit changes in actigraphy-based physical activity and cognitive aging in older adults
Ranjani P Shankar, Rowan Saloner, Coty Chen, 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 results
Pramod 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 trial
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, 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 disorder
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, 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 families
Lori S Sullivan, Sara J Bowne, David G Birch, et al.
Virusdisease
|
February 13, 2015
Epidemiology of foot and mouth disease in Karnataka state, India: a retrospective study
Raveendra Hegde, Amitha R Gomes, P Giridhar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 7, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Suma 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 trial
Uma Ramaswami, Daniel G Bichet, Lorne A Clarke, et al.
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of 15