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December 11, 2018

Case of Chinese Adolescent with Gaucher Disease Highlights Importance of Early Diagnosis, Treatment

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Early and accurate diagnosis of Gaucher disease can prevent poor outcome in children and adolescents affected by the rare illness, a new case report from China suggests. The case ... Read more

December 6, 2018

Enlarged Spleen, Anemia and Family History Among Factors Indicative of Diagnosis, Study Reports

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Signs such as anemia or enlarged liver and spleen, and characteristics such as family history of Gaucher disease (GD) should lead clinicians to consider a GD diagnosis, according to ... Read more

November 26, 2018

International Gaucher Alliance Created to Advocate for Patients’ Needs, Including Better Diagnosis and Care

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Delegates from 48 countries have established the International Gaucher Alliance (IGA) with the goal of working toward “a world where all Gaucher disease patients have access to the treatment and ... Read more

November 20, 2018

New GBA Mutation Causing Gaucher Type 3 with Progressive Epilepsy Described in Case Report

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A newly identified mutation in the GBA gene causes errors in gene processing that trigger the development of Gaucher disease type 3 with progressive myoclonus epilepsy, a case report describes. The ... Read more

November 13, 2018

Two New Mutations Linked to Gaucher Type 1 Identified in Indian Study

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Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers also reported, for the first time, the estimated carrier frequency ... Read more

November 6, 2018

Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports

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A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, ... Read more

October 30, 2018

Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

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Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. ... Read more

October 29, 2018

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach

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With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax ... Read more

October 25, 2018

Case Report on 3 Relatives Stresses Importance of Early Diagnosis and ERT in Gaucher Disease

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A case report on three family members with Gaucher disease (GD) underlines the importance of early diagnosis and treatment with enzyme replacement therapy (ERT) to prevent disease progression and improve quality ... Read more

October 23, 2018

Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

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Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. ... Read more

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