Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation
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DOI: 10.1002/jbmr.3121
Abstract: Gaucher disease (GD), one of the most common lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta‐glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if… read more here.
Keywords: patients type; gaucher disease; microindentation; bone ... See more keywords
Type 3 Gaucher disease, diagnostic in adulthood
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DOI: 10.1016/j.ymgmr.2017.07.002
Abstract: El-Beshlawy reported in the issue of the Journal the largest experience to date of patients with type 3 Gaucher disease (GD3) treated by imiglucerase and enrolled in an International Registry [1]. They confirmed both a… read more here.
Keywords: diagnostic adulthood; gaucher disease; disease diagnostic; type gaucher ... See more keywords
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.159
Abstract: Purpose:The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort.Methods:The cohort includes children… read more here.
Keywords: carrier screening; gaucher; children diagnosed; gaucher disease ... See more keywords
Photo Essay: Retinal Changes in Type 3 Gaucher Disease
Sign Up to like & getrecommendations! Published in 2018 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2017.1420084
Abstract: ABSTRACT Ocular features of Gaucher disease include gaze abnormalities, corneal clouding, ocular deposits and pigmentary changes in the macula. We report the presence of bilateral fovea sparing macular deposits in a 21-year-old woman with type… read more here.
Keywords: gaucher disease; disease; photo essay; type gaucher ... See more keywords
Type I Gaucher disease with bullous pemphigoid and Parkinson disease
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DOI: 10.1097/md.0000000000010188
Abstract: Rationale: Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease… read more here.
Keywords: type gaucher; gaucher disease; disease; bullous pemphigoid ... See more keywords
The natural history of type 2 Gaucher disease in the 21st century
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DOI: 10.1212/wnl.0000000000010605
Abstract: Objective To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols. Methods A structured interview was conducted with parents of living… read more here.
Keywords: type gaucher; natural history; gaucher disease; history ... See more keywords