Case Study: Gaucher Read more about gaucher, glucocerebroside, classically, fatty, spleen and anemia.
Motor- and sensory brain networks do not work efficiently in children with type 1 Gaucher, but this disruption remains stable over time, a study finds.
Read about how researchers are evaluating an innovative therapy using pharmacological chaperones for the treatment of Gaucher disease.
مرض غوشيه Gaucher Disease أو متلازمة الدهن الشحمي الدماغي. هو حالة وراثية ناتجة عن نقص في إنزيم الجلوكوسيريبروسيديز – glucocerebrosidase. يؤدي داء غوشيه إلى
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Read about Population Bio's support for research into rare diseases including mitochondrial disorder, Parkinson's and Gaucher disease.
Le cabinet Taylor James a remporté 4 prix aux Lions Cannes (Festival International de la Créativité) pour cette campagne de sensibilisation à la maladie de
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver.
Le cabinet Taylor James a remporté 4 prix aux Lions Cannes (Festival International de la Créativité) pour cette campagne de sensibilisation à la maladie de
Using machine-learning approaches, researchers unraveled how certain mutations in the glucocerebrosidase gene's enzyme functions at the molecular level.
DelveInsight’s, “Gaucher’s Disease - Pipeline Insight, 2023,” report provides comprehensive insights about 14+ companies and 16+ pipelin...
This case was donated to Radiopaedia.org by Radswiki.net.
Ethnicity and Genetic Diseases Various communities are at an increased risk for many genetic diseases that occur more frequently in their population. Genetic diseases commonly occur in isolated communities, such as Tay-Sachs in the Jewish population. Diseases such as Tay-Sachs are not specific to the Jewish population, as many other ethnic groups, such as Irish, French Canadian ... Read more
North Macedonia's rare disease community has made major progress in funding and awareness in the past decade by reaching out to journalists.
