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January 17, 2019January 18, 2019

Key to Early Diagnosis May Lie in Response to Chronic Anemia Treatment, Case Report Suggests

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Chronic anemia that does not respond to iron supplements might be a warning sign of Gaucher disease (GD) in children and could help with early diagnosis, a case report suggests. ... Read more

January 15, 2019

Researchers Develop 2 Stem Cell Lines from Skin Cells of Gaucher Disease Patients

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Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report. The induced pluripotent stem cell (iPSC) lines — adult ... Read more

January 10, 2019

Case Report Describes First Patient with Both Gaucher Disease, Severe Congenital Neutropenia

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A new case report describes an infant who presented with two rare blood cell diseases simultaneously: Gaucher disease (GD) and severe congenital neutropenia (SCN). This is the first reported ... Read more

January 8, 2019

Study Shows Feasibility of Screening High-risk Gaucher Patients

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A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in ... Read more

January 3, 2019

Arimoclomol Restores Glucocerebrosidase Activity, Localization in Gaucher Disease

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The small molecule arimoclomol — which is already in Phase 2/3 clinical testing — improves the folding and maturation of abnormal glucocerebrosidase across multiple cell models of Gaucher disease, including neuronopathic ... Read more

December 21, 2018December 21, 2018

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

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Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to ... Read more

December 18, 2018

D409H Mutation in GBA Gene Linked to Calcification in Heart, Case Report Shows

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Gaucher disease patients harboring a D409H mutation in the GBA gene show calcification — deposits of calcium salts — in the heart vessels, increasing their risk of cardiac problems, according ... Read more

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

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